Publications
- 264. A genome-wide linkage scan for cleft lip and palate and dental anomalies.. Am J Med Genet A.146A:1406-1413, 2008.
- 263. Review on Genetic Variants and Maternal Smoking in the Etiology of Oral Clefts and Other Birth Defects.. Birth Defects Res Part C 84:16-29, 2008..
- 262. “Mendelian randomization” equals instrumental variable analysis with genetic instruments.. Stat Med. Jul 10;27(15):2745-2749, 2008..
- 261. Genetic variants in IRF6 and the risk of facial clefts: Single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.. Genet Epidemiol 32(5):413-424, 2008..
- 260. X-chromosome inactivation patterns in monozygotic twins and sib pairs discordant for nonsyndromic cleft lip and/or palate.. Am J Med Genet A. Nov 14;143(24):3267-3272, 2007.
- 259. Preliminary molecular studies on blepharocheilodontic syndrome.. Am J Med Genet A. 143A:2757-2759, 2007..
- 258. Commentary. The changing face of preterm birth.. Pediatrics 120(5):1133-1134, 2007..
- 257. Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridization.. J Med Genet. 45:81-86, 2008..
- 256. Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases.. Am J Med Genet A. 143A:3228-3234, 2007..
- 255. Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.. Journal of Perinatology 27:672-680, 2007..
- 254. Evaluation of fetal and maternal genetic variation in the progesterone receptor gene for contributions to preterm birth.. Pediatric Research 62(5):630-635, 2007..
- 253. Candidate gene and locus analysis of myopia.. Molecular Vision 13:1012-1019, 2007..
- 252. The effects of prenatal use of folic acid and other dietary supplements on early child development.. Matern Child Health J (June 7), 2007..
- 251. Abnormal brain structure in adults with Van der Woude syndrome.. Clin Genet 71:511-517, 2007..
- 250. Double paternal nondisjunction in an infant with transient neonatal diabetes mellitus and Klinefelter Syndrome.. Am J Med Genet Part A 143A:895-898, 2007..
- 249. A novel mutation in the PHF8 gene is associated with x-linked mental retardation with cleft lip/cleft palate.. Clin Genet 72:19-22, 2007..
- 248. Cognitive dysfunction in adults with Van der Woude syndrome.. Genet in Med 9(4):213-218, 2007..
- 247. What genome-wide association studies can do for medicine.. N Engl J Med Mar 15:356(11):1094-1097, 2007..
- 246. Oral clefts and life style factors - A case-cohort study based on prospective Danish data.. Eur J Epidemiol Feb 13[Epub ahead of print], 2007.
- 245. Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.. Am J Med Genet Part A 143A:538-545, 2007..
- 244. A genome-wide linkage scan for cleft lip and cleft palate idenfies a novel locus on 8p11-13.. Am J Med Genet Part A 143A:846-852, 2007..
- 243. Health-related quality of life among preadolescent children with oral clefts.. Pediatrics Aug;120(2):e283-290, 2007..
- 242. Impaired FGF signaling contributes to cleft and lip palate.. Proc Natl Acad Sci USA 2007 Mar 13;104(11):4512-4517. Epub 2007 Mar 6..
- 241. Orofacial cleft risk is increased with maternal smoking and specific detoxification gene variants.. Am J Hum Genet 80(1):76-90, 2007..
- 240. Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.. Am J Med Genet Part A. 143A:27-32, 2007..
- 239. Type of oral cleft and parent perceptions of care, health status and outcomes for preadolescent children.. Cleft Palate Craniofac J. Nov;43(6):715-721, 2006..
- 238. GLI2 Mutations in four Brazilian patients: How wide is the phenotypic spectrum?. Am J Med Genet A. Dec 1;140(23)2571-2576, 2006..
- 237. PVRL1 variants contribute to nonsyndromic cleft lip and palate in multiple populations.. Am J Med Genet A. Dec1;140(23):2562-2570, 2006..
- 236. Predictors of Topical anesthetic effectiveness in children.. J Pain Sept 27; [Epub ahead of print], 2006..
- 235. PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.. Am J Med Genet A Sept. 25; [Epub ahead of print], 2006.
- 234. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).. Nature Genet Oct 15; 2006.
- 233. Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.. BMC Med. Genet. Jul ll;7(1):59, 2006..
- 232. CHD7 Gene and Non-Syndromic Cleft Lip and Palate.. Am J Med Genet A June 8;[epub ahead of print] 2006..
- 231. Integrating molecular genetics analyses into clinical research.. Biol Res Nurs. Jul; 8(1):67-77, 2006..
- 230. Genetic evidence for the role of loci at 19q13 in cleft lip and palate.. J Med Genet 43(6):e26, 2006..
- 229. Candidate genes for oral-facial celfts in Guatemalan families.. Ann Plast Surg 56(5):518-521, 2006..
- 228. An unusual class of PITX2 mutations in Axenfeld-Rieger syndrome.. Birth Defects Res A Clin Mol Teratol 76(3):175- 181, 2006..
- 227. Protein kinase C phosphorylation modulates N- and C- terminal regulatory activities of the PITX2 homeodomain protein.. Biochemistry 44(10):3942-3954, 2005..
- 226. Description of the methodology used and progress to date in an ongoing pediatric care interventional study of children born with cleft lip and palate in South America.. BMC Pediatr 6(1):9, 2006..
- 225. Dermatoglyphic Pattern Types in Subjects with Nonsyndromic Cleft Lip with or without Cleft Palate (CL/P) and their Unaffected Relatives in the Philippines.. Cleft Palate Craniofac J, 42(4):362-366, 2005..
- 224. Health professionals' assessment of health-related quality of life values for oral clefting by age using a visual analogue scale method.. Cleft Palate Craniofac J 43(4) 383-391., 2006. .
- 223. A SNP in the ABCC11 gene is the determinant of human earwax type.. Nat Genet 38(3): 324-330, 2006..
- 222. Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate.. PLoS Genet Dec. 1:e64, 2005..
- 221. Contributions of PTCH gene variants to isolated cleft lip and palate.. Cleft Palate- Craniofac J 43(1):21-29, 2006..
- 220. Cancer Risk in Persons with Oral Cleft – A Population-based Study of 8,093 cases.. Am J Epidemiol 161(11):1047-1055, 2005..
- 219. Evaluation of Two Methods for Assessing Gene-Environment Interactions Using Data from the Danish Case-Control Study of Facial Clefts.. Birth Defects Res (Part A): Clinical Mol Teratol 73:541-546, 2005..
- 218. Studies of reduced folate carrier 1 (RFC1) A80G and 5,10- methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects.. Am J Med Genet 135A:220-223, 2005..
- 217. A search for the gene(s) predisposing to idiopathic clubfoot.. Clin Genet 67:361-362, 2005.
- 216. Orofacial clefting: recent insights in a complex trait.. Curr Opin Genet Dev 15:270-278, 2005..
- 215. Parent's Age and the Risk of Oral Clefts.. Epidemiology 16(3):311-316, 2005..
- 214. Platelet glycoprotein Iba and integrin a2b1 polymorphisms: gene frequencies and linkage disequilibrium in a population diversity panel.. J Thromb Haemost 3(7):1511-21, 2005..
- 213. Dermatoglyphic fingerprint heterogeneity among individuals with nonsyndromic cleft lip with or without cleft palate and their unaffected relatives in China and the Philippines.. Hum Biol 77(2):257-266, 2005..
- 212. Discordant MZ twins with cleft lip and palate: A model for identifying genes in complex traits.. Twin Research 8(1):39-46, 2005..
- 211. Mutational analysis of the muscle segment homeobox 1 (MSX1) gene in Chilean patients with oral clefts.. Revista Medica del Chile 132:816-822, 2004..
- 210. Genetic approaches to identify disease genes for birth defects with cleft lip/palate as a model.. Birth Defects Res A Clin Mol Teratol 70(12):893-901, 2004..
- 209. MSX1, PAX9 and TGFA contribute to tooth agenesis in humans.. J Dent Res 83(9):723-727, 2004..
- 208. Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count.. Am J Hematol 77(1):12-21, 2004..
- 207. Cleft palate: Players, pathways, and pursuits.. J Clin Invest 113(12):1676-1678, 2004..
- 206. Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.. Am J Hum Genet 75(2):161-173, 2004..
- 205. Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.. Am J Med Genet 130A:277-283, 2004..
- 204. Interferon regulatory factor 6 (IRF6) is a modifier for isolated cleft lip and palate.. N Engl J Med 351:769-780, 2004..
- 203. Long-term follow-up study of survival associated with cleft lip and palate at birth.. Br Med J 328(7453):1405-1409, 2004..
- 202. In a Vietnamese population MSX1 variants contribute to cleft lip and palate.. Genet Med 6:117-125, 2004..
- 201. Application of kinetic polymerase chain reaction and molecular beacon assays to pooled analyses and high-throughout genotyping for candidate genes.. Birth Defects Res A Clin Mol Teratol 70:65-74, 2004..
- 200. Analysis of two translocation breakpoints and identification of a negative regulatory element in patients with Rieger's syndrome.. Birth Defects Res A Clin Mol Teratol 70(2):82-91, 2004..
- 199. TBX22 Mutations are a frequent cause of cleft palate.. J Med Genet 41:68-74, 2004..
- 198. VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.. Ophthalmology 111:828-836, 2004..
- 197. A targeted scan of fifteen regions for nonsyndromic cleft lip and palate in Filipino families.. Am J Med Genet 125A(1):17-22, 2004..
- 196. Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: Two missense mutations (R45Q and P396S) and a 17-kb deletion.. J Hum Genet 48:622-628, 2003..
- 195. Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads.. Genet Epidemiol 25:367-374, 2003..
- 194. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region.. Cleft Palate-Craniofac J 40:274-279, 2003..
- 193. Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome.. Am J Med Genet 122A:56-58, 2003..
- 192. Genotype frequencies and linkage disequilibrium in the CEPH human diversity panel for MTHFR, MTHFD, MTRR, RFC1 and GCP2 folate pathway gene variants.. Birth Defects Research A Clin Mol Teratol 67:545- 549, 2003..
- 191. Complete sequencing shows a role for MSX1 in non- syndromic cleft lip and palate.. J Med Genet 40:399-407, 2003..
- 190. Association of specific language impairment (SLI) to the region of 7q31.. Am J Hum Genet 72:1536-1543, 2003..
- 189. Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads.. Am J Epidemiol 157:1083-91, 2003..
- 188. MSX1 and TGFB3 contribute to clefting in South America.. J Dent Res 82:289-292, 2003..
- 187. Prenatal diagnosis is for the DR, not just the OR.. Am J Med Genet 120A:594- 595, 2003..
- 186. Conjoined twins in a monozygotic triplet pregnancy: Prenatal diagnosis and X-inactivation.. Teratology 66:278-281, 2002..
- 185. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible possible genetic heterogeneity in Knoblock Syndrome.. Am J Hum Genet 71(6):1320-1329, 2002..
- 184. Retinoic Acid Receptor Alpha Gene Variants, Multivitamin Use and Liver Intake as Risk Factors for Oral Clefts: A Population- Based Case-Control Study in Denmark, 1991-1994.. Epidemiology 158:69-76, 2003..
- 183. Genetics origins in a South American clefting population.. Clin Genet 62:458-463, 2002..
- 182. Genetic loci for pathological myopia are not associated with juvenile myopia.. Am J Med Genet 112:355- 360, 2002..
- 181. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with facial clefts – a case-parent triad analysis.. Genet Epidemiol 24:230-239, 2003..
- 180. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.. Nat Genet 32(2):285-289, 2002..
- 179. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.. J Med Genet 39(8):559-66, 2002..
- 178. Maternal Age and Oral Clefts: A Reappraisal.. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94(5):530-535, 2002..
- 177. Studies with His475Tyr glutamate carboxipeptidase II polymorphism and neural tube defects.. Am J Med Genet 111(2):218-219, 2002..
- 176. Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): Structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts.. Teratology 66(2):85-90, 2002..
- 175. Guidelines for the design and analysis of studies on non-syndromic cleft lip and cleft palate in humans: summary report from a workshop of The International Consortium for Oral Clefts Genetics.. Cleft Palate Craniofac J 39(1):93-100, 2002..
- 174. Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD.. J Med Genet 39(11):807-811, 2002..
- 173. Association between the tumor necrosis factor locus and the clinical outcome of Leishmania chagasi infection.. Infect Immun 70(12):6919-6925, 2002..
- 172. Gene/environment causes of cleft lip and/or palate.. Clin Genet 61(4):248-256, 2002..
- 171. Loss of the SKI proto-oncogene in people affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice.. Nat Genet 30(1):106-109, 2002..
- 170. Integration of DNA sample collection into a multi-site birth defects case-control study.. Teratology 66:177-184, 2002..
- 169. Time for T.. Nat Genet 29(2):107-109, 2001..
- 168. The unending string.. Arch Pediatr Adolesc Med 155(11):1193-1194, 2001..
- 167. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.. Hum Mol Gen 10(3):231-236, 2001..
- 166. Genetic susceptibility to preeclampsia: Roles of C677T methylenetetrahydrofolate reductase Muatation, 844 J INS 68 cystathionine b-synthase mutation, and Factor V Leiden mutation.. Am J Obstet Gynecol 184(6):1211-17, 2001..
- 165. PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: Implications for the pathology of Rieger syndrome.. J Cell Biol 152(3):545-552, 2001..
- 164. Antagonistic regulation of Dlx2 expression by PITX2 and Msx2: Implications for tooth development.. Gene Expr 9(6):265-81, 2001..
- 163. Evaluation of two putative susceptibility loci for oral clefts in the Danish population.. Am J Epidemiol 153(10):1007-1015, 2001..
- 162. Lipoprotein lipase gene mutations and susceptibility to preeclampsia.. Hypertension 38(5):992-996, 2001..
- 161. Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41.. Hum Mutat 18(5):422-434, 2001..
- 160. Identification of a dominant negative homeodomain mutation in Rieger syndrome.. J Biol Chem 276(25): 23034-23041, 2001..
- 159. A preliminary gene map for the Van der Woude Syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41.. Genome Res 10:81-94, 2000..
- 158. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice.. Hum Mol Genet 9:1575-1585, 2000..
- 157. Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.. Am J Med Genet 91:387-390, 2000..
- 156. Domain-specific mutations in the human transforming growth factor beta 1 gene (TGFB1) result in Camurati-Engelmann Disease.. Nat Genet 26:19-20, 2000..
- 155. Localization of dominantly inherited isolated triphalangele thumb to chromosomal region 7q36.. J Orthop Res 18:340-344, 2000..
- 154. Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.. Genomics 63:289-293, 2000..
- 153. Antagonistic signals between BMP4 and FGF8 define the expression of Pitx1 and Pitx2 in mouse tooth forming anlage.. Dev Biol 217:323-332, 2000..
- 152. The Pitx2 protein in mouse development.. Dev Dyn 218:195-200, 2000..
- 151. The human BARX2 gene: Genomic structure, chromosomal localization, and single nucleotide polymorphisms.. Genomics 62:456-459, 1999..
- 150. Privacy in genetics research.. Science 285:1359-1361, 1999..
- 149. The many faces and factors of orofacial clefts.. Hum Mol Genet 8:1853-1859, 1999..
- 148. Genomic structure of the human retinoic acid receptor-alpha1 gene.. Mamm Genome 10:528-529, 1999..
- 147. Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences and mutation analysis in non-syndromic cleft lip/palate and cleft palate only.. Genomics 61:237-242, 1999..
- 146. Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.. Am J Med Genet 84:145-150, 1999..
- 145. Analysis of select folate pathway genes, PAX3, and human T in a midwestern neural tube defect population.. Teratology 59:331-341, 1999..
- 144. Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: Evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts.. Teratology 59:39-50, 1999..
- 143. Oral clefts, transforming-growth-factor-alpha gene variants, and maternal smoking: A population based case-control study in Denmark 1991-1994.. Am J Epidemiol 149(3):248-255, 1999..
- 142. Cloning and chromosomal localization of two novel human genes encoding LIM-domain binding factors CLIM1 and CLIM2/LDB1/NLI.. Mamm Genome 9:921-924, 1998..
- 141. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans.. Am J Hum Genet 63:557-568, 1998..
- 140. Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry.. Cell 94:299- 305, 1998..
- 139. Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene.. Eur J Hum Genet 6:251-256, 1998..
- 138. Comprehensive human genetic maps: Individual and sex-specific variation in recombination.. Am J Hum Genet 63:861-869, 1998..
- 137. Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.. Genomics 54:231-240, 1998..
- 136. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD in humans.. Nat Genet 19:167-170, 1998..
- 135. A new homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse.. Hum Mol Genet 7:415-422, 1998..
- 134. Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use.. Cleft Palate-Craniofac J 35:366- 370, 1998..
- 133. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG) gene.. Am J Ophthalmol 125(1): 98-100, 1998..
- 132. Cloning, characterization, and gene mapping of the mouse homeobox gene Hmx1.. Genomics 50:61-68, 1998..
- 131. The effect of follow-up on limiting non-participation bias in genetic epidemiologic investigations.. Eur J Epidemiol 14:129-138, 1998..
- 130. (Polymorphism report) Complex trinucleotide repeat polymorphism in the HOXB6 gene.. Hum Mutat 9:280-281, 1997..
- 129. The scleroatrophic syndrome of Huriez.. Br J Dermatol 137:114-118, 1997..
- 128. Characterization of Alu repeats that are associated with trinucleotide and tetranucleotide repeat microsatellites.. Genome Res 7:716-724, 1997..
- 127. Assignment of the murine Hmx1 homeobox gene to the proximal region of mouse chromosome 5.. Mamm Genome 8:869-870, 1997..
- 126. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: Expression during lens development and mapping to the aphakia region on mouse chromosome 19.. Hum Mol Genet 6:2109-2116, 1997..
- 125. Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia.. Genomics 45: 425-428, 1997..
- 124. Exclusion of Ifa and Ifb as the Lps gene and mapping of three markers near the Lps locus.. Mamm Genome 8:785-786, 1997..
- 123. Genomic structure, sequence, and mapping of human FGF8, with exclusion of its role in craniosynostosis/limb defect syndromes.. Am J Med Genet 72:354-362, 1997..
- 122. Maternal interview reports of family history of birth defects.. Am J Med Genet 72:422-429, 1997..
- 121. Clinical and epidemiologic studies of cleft lip and palate in the Philippines.. Cleft Palate-Craniofac J 34:7-10, 1997..
- 120. Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines.. Cleft Palate-Craniofac J 34:1-6, 1997..
- 119. Evidence for an association between markers on chromosome 19q and non-syndromic cleft lip with or without cleft palate in two groups of multiplex families.. Hum Genet 99:22-6, 1996..
- 118. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RGS, involved in the pathogenesis of Rieger syndrome.. Nat Genet 14:392-399, 1996..
- 117. Closing in on the Rieger syndrome gene on 4q25: Mapping translocation breakpoints within a 50-kb region.. Am J Hum Genet 59:1297-1305, 1996..
- 116. Exclusion of the epidermal growth factor (EGF) and high-resolution physical mapping across the Rieger syndrome locus.. Am J Hum Genet 59:1288-1296, 1996..
- 115. Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41.. Genomics 36:507-514, 1996..
- 114. Maternal alcohol use and risk of orofacial cleft birth defects.. Teratology 54:27-33, 1996..
- 113. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.. Hum Mol Genet 5:843-847, 1996..
- 112. Development of a screening set for new (CAT/CTG)n dynamic mutations.. Genomics 32:75-85, 1996..
- 111. Chromosomal assignment of 2900 tri- and tetranucleotide repeat markers using NIGMS somatic cell hybrid panel 2.. Genomics 32:15-20, 1996..
- 110. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants.. Am J Hum Genet 58:551-561, 1996..
- 109. Face Facts: Genes, Environment and Clefts.. Am J Hum Genet 57:227-232, 1995..
- 108. Molecular analysis of nondisjunction in Down syndrome patients with and without atrioventricular septal defects.. Circulation 92:2803-2810, 1995..
- 107. Polymerase chain reaction determination of RhD blood type: an evaluation of accuracy.. Obstet Gynecol 86(2):214-217, 1995..
- 106. Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers.. Hum Mol Genet 4(10):1829-1836, 1995..
- 105. Genetic mapping of the dentinogenesis imperfecta type II locus.. Am J Hum Genet 57:832-839, 1995..
- 104. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: further delineation of the critical region.. Am J Hum Genet 57:667-673, 1995..
- 103. Phenotypic and pathologic evaluation of the myd mouse: A candidate model for facioscapulohumeral dystrophy.. J Neuropathol Exp Neurol 54:601-606, 1995..
- 102. A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps.. Hum Mol Genet 4(10):1837-1844, 1995..
- 101. Genomic organization of the human osteopontin gene: exclusion of the locus from a causative role in the pathogenesis of the dentinogenesis imperfecta type II.. Genomics 27:155-160, 1995..
- 100. Phylogenetic conservation and physical mapping of members of H6 homeobox gene family.. Mamm Genome 6:383- 388, 1995..
- 99. Genetic mapping near the myd locus on mouse chromosome 8.. Mamm Genome 6:278-280, 1995..
- 98. Mouse myodystrophy (myd) mutation: refined mapping in an interval flanked by homology with distal human 4q.. Muscle Nerve 18(Suppl 2):S98-S102, 1995..
- 97. FISH mapping of 250 cosmid and 26 YAC clones to chromosome 4, with special emphasis on the FSHD region at 4q35.. Muscle Nerve 18(Suppl):S14-S18, 1995..
- 96. Microsatellite based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414.. Am J Hum Genet 56:310-318, 1995..
- 95. CEPH consortium map of chromosome 14.. Cytogenet Cell Genet 69:175-178, 1995..
- 94. (Polymorphism report) A PCR method for detecting Taq1 polymorphism in transforming growth factor-alpha (2p13).. Hum Mol Genet 3(4):678, 1994..
- 93. (Polymorphism report) Dinucleotide repeat polymorphism for the homeobox gene HLX1 on chromosome 1q.. Hum Mol Genet 3:219, 1994..
- 92. Human genetic map.. Genome maps V. Wall Chart. Science 264(5181):2055-2070, Sep 30,1994..
- 91. A comprehensive human linkage map with centimorgan density.. Science 265:2049-2054, 1994..
- 90. Genetic linkage mapping for a susceptibility locus to bipolar illness: Chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22 and Xpter.. Am J Med Genet (Neuropsychiatric Genet) 54:206-218, 1994..
- 89. Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.. Hum Mol Genet 3(5):787-792, 1994..
- 88. Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7q36 and evidence for genetic heterogeneity.. Proc Natl Acad Sci USA 91:8102-8106, Aug. 1994..
- 87. Craniofacial morphogenesis workshop report.. Cleft Palate Craniofac J 31(3):230-231, 1994..
- 86. Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.. Hum Mol Genet 3(4):575-578, 1994..
- 85. Isolation of yeast artificial chromosome clones from 54 polymorphic loci mapped with high odds on human chromosome 4.. Hum Mol Genet 3(2):243-246, 1994..
- 84. Integrated human genome-wide maps constructed using the CEPH reference panel.. Nat Genet 6:391-393, Apr. 1994..
- 83. The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.. Hum Genet 92:198-203, 1993..
- 82. Polymorphisms and rare sequence variants at the ROM1 locus.. Hum Mol Genet 2(11): 1975-1977, 1993..
- 81. The DNA rearrangement associated with facioscapulohumeral muscular dystrophy involves a heterochromatin-associated repetitive element: Implications for a role of chromatin structure in the pathogenesis of the disease.. Chromosome Res 2:225-234, 1994..
- 80. Association of transforming growth factor alpha gene polymorphisms with isolated non- syndromic cleft palate (CPO).. Am J Hum Genet 53:836-843, 1993..
- 79. A single gene explanation for the probability of having idiopathic talipes equinovarus.. Am J Hum Genet 53:1051-1063, 1993..
- 78. Linkage localization of TGFB2 and the human homeobox gene HLX1 to Chromosome 1q.. Genomics 15:357-364, 1993..
- 77. (Polymorphism report) Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus.. Hum Mol Genet 1(9):779, 1992..
- 76. (Polymorphism report) A tetranucleotide repeat for the F13B locus.. Nucleic Acids Res 20:1167, 1992..
- 75. (Polymorphism report) A dinucleotide repeat for the D1S53 locus.. Nucleic Acids Res 20:1167, 1992..
- 74. The chromosome 4 workshop report.. Genomics 12:857-858, 1992..
- 73. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4.. Nat Genet 2:46-49, 1992..
- 72. A comprehensive genetic linkage map of the human genome.. Science 258:67-86, Oct. 1992..
- 71. Identification and genetic mapping of a novel homeobox gene to the 4p16.1 region of human chromosome 4.. Proc Natl Acad Sci USA 89:11579-11583, 1992..
- 70. The CEPH Consortium linkage map of human chromosome 15q.. Genomics 14:833-840, 1992..
- 69. Characterization of the human HOX7 cDNA and identification of polymorphic markers.. Hum Mol Genet 1(6):407-410, 1992..
- 68. Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability.. Nucleic Acids Res 20(13):3419-3425, 1992..
- 67. The CEPH consortium linkage map of human chromosome 2.. Genomics 14:1055-1063, 1992..
- 66. Genetic and physical maps of human chromosome 4 based on dinucleotide repeats.. Genomics 14:209- 219, 1992..
- 65. Genetic marker study of dentinogenesis imperfecta.. Proc Finn Dent Soc 88(suppl 1):285-293, 1992..
- 64. Linkage localization of facioscapulohumeral dystrophy in 4q35.. Am J Hum Genet 51:428- 431, 1992..
- 63. Genetic and physical mapping on chromosome 4 narrows the localization of the gene for FSHD.. Am J Hum Genet 51:432-439, 1992..
- 62. Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium.. Am J Hum Genet 51:396-403, 1992..
- 61. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35- qter.. Am J Hum Genet 51:411-415, 1992..
- 60. Localization of two new DNA markers on the linkage map of human chromosome 6q.. Cytogenet Cell Genet 60:216-218, 1992..
- 59. Dentin phosphoprotein gene locus is not associated with dentinogenesis imperfecta Types II and III.. Am J Hum Genet 50:190-194, 1992..
- 58. (Polymorphism report) EcoRI and PvuII RFLPs in the endonexin II/Annexin V (ANX5) gene on chromosome four.. Nucleic Acids Res 19(7):1723, 1991..
- 57. (Polymorphism report) An EcoO109 RFLP for the SNRPE gene on chromosome 1.. Nucleic Acids Res 19(7):1724, 1991..
- 56. Genetic and physical mapping around the properdin P gene.. Genomics 11:991-996, 1991..
- 55. Physical and genetic mapping of the CDR gene with particular reference to its position with respect to the FRAXA site.. Am J Med Genet 38:357- 362, 1991..
- 54. A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates.. Am J Hum Genet 48:911-925, 1991..
- 53. Chromosomal localization of the gene for annexin V (placental anticoagulant protein I).. Cytogenet Cell Genet 57:187-192, 1991..
- 52. The CEPH consortium linkage map of human chromosome 1.. Genomics 9:686-700, 1991..
- 51. Characterization of the calcitonin/CGRP gene in Williams syndrome.. Am J Med Genet 39:28-33, 1991..
- 50. Report of the committee on the genetic constitution of chromosome 4.. Cytogenet Cell Genet 55(1-4):97-110, 1990..
- 49. A detailed multipoint gene map of chromosome 1q.. Genomics 8:13-21, 1990..
- 48. Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome 1q.. Am J Hum Genet 46:486-491, 1990..
- 47. The CEPH consortium primary linkage map of human chromosome 10.. Genomics 6:393-412, 1990..
- 46. (Polymorphism report) RFLPs for ATP1BL1 on chromosome 4.. Nucleic Acids Res 17:8894, 1989..
- 45. (Polymorphism report) A ScaI RFLP demonstrated for the GRO gene on chromosome 4.. Nucleic Acids Res 17:8895, 1989..
- 44. (Polymorphism report) MspI RFLP for SNRNPE gene on 1q.. Nucleic Acids Res 17:8896, 1989..
- 43. (Polymorphism report) A new HincII RFLP for epidermal growth factor (EGF) on chromosome 4.. Nucleic Acids Res 17:5870, 1989..
- 42. (Polymorphism report) A KpnI polymorphism for the human insulin-responsive glucose transporter gene (GLUT4) on chromosome 17.. Nucleic Acids Res 17:3621, 1989..
- 41. (Polymorphism report) SacI and XbaI Polymorphisms detected by lipocortin 2A (LPC2A).. Nucleic Acids Res 17:5417, 1989..
- 40. Linkage localization of Borjeson-Forssman-Lehmann syndrome.. Am J Med Genet 34:470-474, 1989..
- 39. Association of genetic variation of the transforming growth factor-alpha gene with cleft lip and palate.. Am J Hum Genet 45:348-353, 1989..
- 38. Non-random association between alleles detected by D4S95 and D4S98 and the Huntington's disease gene.. J Med Genet 26:676- 681, 1989..
- 37. Report of the committee on the genetic constitution of chromosome 4.. Cytogenet Cell Genet 51:121-136, 1989..
- 36. Loss of heterozygosity suggests tumor suppressor gene responsible for primary hepatocellular carcinoma.. Proc Natl Acad Sci USA 86:8852-8856, Nov. 1989..
- 35. Polymorphic human insulin-responsive glucose transporter gene on chromosome 17p13.. Diabetes 38(8):1072-1075, 1989..
- 34. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers.. Am J Hum Genet 44:48-50, 1989..
- 33. Twenty-eight loci form a continuous linkage map of markers for human chromosome 1.. Genomics 4:12-20, 1989..
- 32. (Polymorphism report) A TaqI RFLP identified at the retinoblastoma locus on chromosome 13.. Nucleic Acids Res 16:9069, 1988..
- 31. (Polymorphism report) A HindIII RFLP demonstrated for the kit oncogene on chromosome 4.. Nucleic Acids Res 16:4740, 1988..
- 30. (Polymorphism report) A TaqI RFLP demonstrated for pIBS17 (D4S123), a single copy sequence on chromosome 4.. Nucleic Acids Res 16:2743, 1988..
- 29. (Polymorphism report) HincII and KpnI RFLPs for laminin B1 (LAMB1) gene on chromosome 7.. Nucleic Acids Res 16:8742, 1988..
- 28. (Polymorphism report) RFLP for the human transforming growth factor-beta1 gene (TGFB1) on chromosome 19.. Nucleic Acids Res 16:8202, 1988..
- 27. (Polymorphism report) A BglI polymorphism for the interleukin-2 receptor gene (IL2R) on chromosome 10.. Nucleic Acids Res 16:8201, 1988..
- 26. RFLPs and linkage relationships of the human laminin B2 gene.. Genomics 3:393-395, 1988..
- 25. Mapping of the human complement factor I gene to 4q25.. Genomics 4:82- 86, 1989..
- 24. A study of autism using X chromosome DNA probes.. Biol Psychiatry 24:473-479, 1988..
- 23. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34.. Genomics 2:139-143, 1988..
- 22. An RFLP for glycophorin A (MN) is in linkage disequilibrium with MN and Ss.. Cytogenet Cell Genet 47:149-151, 1988..
- 21. Pairwise linkage analysis of ll markers on chromosome 4.. Am J Hum Genet 42:490-497, 1988..
- 20. (Polymorphism report) Multiple RFLPs demonstrated for epidermal growth factor receptor (EGFR) on chromosome 7.. Nucleic Acids Res 15:6764, 1987..
- 19. (Polymorphism report) RFLP for the glucocorticoid receptor (GRL) located at 5qll-5ql3.. Nucleic Acids Res 15:6765, 1987..
- 18. (Polymorphism report) An anonymous genomic clone that detects a frequent RFLP adjacent to the D4S10 (G8) marker and Huntington's disease.. Nucleic Acids Res 15:377, 1987..
- 17. Linkage analysis of Charcot-Marie-Tooth neuropathy (HMSN type I).. J Neurol Sci 80:73-78, 1987..
- 16. Von Recklinghausen neurofibromatosis: A linkage study of candidate and random marker genes.. J Med Genet 24:522-524, 1987..
- 15. Rapid RFLP screening procedure identifies new polymorphisms at albumin and alcohol dehydrogenase loci.. Hum Genet 76:274-277, 1987..
- 14. The polymorphic human glucose transporter (GLUT) gene is on chromosome lp3l.3-p35.. Diabetes 36(4):546-549, Apr. 1987..
- 13. Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26- 6q27.. Am J Hum Genet 40:338-350, 1987..
- 12. Genetic linkage relationships of Charcot-Marie- Tooth Disease (HMSN-Ib) to chromosome 1 markers.. Neurology 37(2):325-329, Feb. 1987..
- 11. (Polymorphism report) RFLPs for transforming growth factor alpha (TGFA) gene at 2pl3.. Nucleic Acids Res 14:7136, 1986..
- 10. (Polymorphism report) RFLPs for epidermal growth factor (EGF), a single copy sequence at 4q25-4q27.. Nucleic Acids Res 14:5117, 1986..
- 9. Cytomegalovirus transmission in a midwest day care center: Relationship to child care and hygienic practices.. J Pediatr 109(1):35-39, Jul. 1986..
- 8. (Polymorphism report) RFLPs for alphafetoprotein, a single copy sequence at 4qll-4ql3.. Nucleic Acids Res 13:6794, 1985..
- 7. Dandy-Walker Malformation: Etiologic heterogeneity and empiric recurrence risks.. Clin Genet 28:272-283, 1985..
- 6. Informed consent for research publication of patient related data.. Clin Res 32:404-408, Oct, 1984..
- 5. Linkage disequilibrium and evolutionary relationship of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus.. Proc Natl Acad Sci USA 81:3486-3490, Jun. 1984..
- 4. Rh isoimmunization related to amniocentesis.. Am J Med Genet 16:527-534, 1983..
- 3. Restriction endonuclease mapping of gamma-delta-beta globin region in G-gamma (beta+) HPFH and a Chinese A-gamma HPFH variant.. Am J Hum Genet, 35:6ll-620, 1983..
- 2. Restriction endonuclease mapping of globin genomic region of HEL (Human Erythroleukemia) line.. Hemoglobin 7(3):245-256, 1983..
- 1. Molecular genetics of human serum albumin: Restriction fragment length polymorphisms and analbuminemia.. Proc Natl Acad Sci 80:5951-5955, Oct. 1983..
Clefts of the lip and/or palate are common human birth defects that require substantial surgical, dental, speech, and behavioral interventions and impose economic and societal burdens.
Subscribe