-
1
-
-
18344372557
-
Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
-
Asumalahti K, Veal C, Laitinen T, et al. 2002. Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus. Hum Mol Genet 11:589-597.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 589-597
-
-
Asumalahti, K.1
Veal, C.2
Laitinen, T.3
-
2
-
-
0029856593
-
Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia)
-
Bravo ML, Valenzuela CY, Arcos-Burgos OM. 1996. Polymorphisms and phyletic relationships of the Paisa community from Antioquia (Colombia). Gene Geogr 10:11-17.
-
(1996)
Gene Geogr
, vol.10
, pp. 11-17
-
-
Bravo, M.L.1
Valenzuela, C.Y.2
Arcos-Burgos, O.M.3
-
3
-
-
0034785350
-
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
-
Braybrook C, Doudney K, Marcano AC, et al. 2001. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29:179-183.
-
(2001)
Nat Genet
, vol.29
, pp. 179-183
-
-
Braybrook, C.1
Doudney, K.2
Marcano, A.C.3
-
4
-
-
0032231333
-
A chromosomal deletion map of human malformations
-
Brewer C, Holloway S, Zawalnyski P, et al. 1998. A chromosomal deletion map of human malformations. Am J Hum Genet 63:1153-1159.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
-
5
-
-
0033361899
-
A chromosomal duplication map of malformations: Regions of suspected haplo- and triplolethality - And tolerance of segmental aneuploidy - In humans
-
Brewer C, Holloway S, Zawalnyski P, et al. 1999. A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality - and tolerance of segmental aneuploidy - in humans. Am J Hum Genet 64:1702-1708.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1702-1708
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
-
6
-
-
0032231877
-
Comprehensive human genetic maps: Individual and sex-specific variation in recombination
-
Broman KW, Murray JC, Sheffield VC, et al. 1998. Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861-869.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 861-869
-
-
Broman, K.W.1
Murray, J.C.2
Sheffield, V.C.3
-
7
-
-
0038167547
-
Recent developments in orofacial cleft genetics
-
Carinci F, Pezzetti F, Scapoli L, et al. 2003. Recent developments in orofacial cleft genetics. J Craniofac Surg 14:130-143.
-
(2003)
J Craniofac Surg
, vol.14
, pp. 130-143
-
-
Carinci, F.1
Pezzetti, F.2
Scapoli, L.3
-
8
-
-
0346373654
-
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium
-
Carlson CS, Eberle MA, Rieder MJ, et al. 2004. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet 74:106-120.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 106-120
-
-
Carlson, C.S.1
Eberle, M.A.2
Rieder, M.J.3
-
9
-
-
0032744735
-
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
-
Celli J, Duijf P, Hamel BC, et al. 1999. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143-153.
-
(1999)
Cell
, vol.99
, pp. 143-153
-
-
Celli, J.1
Duijf, P.2
Hamel, B.C.3
-
10
-
-
0027329897
-
Cleft lip (± cleft palate) in Danish twins 1970-1990
-
Christensen K, Fogh-Andersen P. 1993. Cleft lip (± cleft palate) in Danish twins 1970-1990. Am J Med Genet 47:910-916.
-
(1993)
Am J Med Genet
, vol.47
, pp. 910-916
-
-
Christensen, K.1
Fogh-Andersen, P.2
-
11
-
-
2942705950
-
Long term follow up study of survival associated with cleft lip and palate at birth
-
Christensen K, Juel K, Herskind AM, Murray JC. 2004. Long term follow up study of survival associated with cleft lip and palate at birth. BMJ 328:1405.
-
(2004)
BMJ
, vol.328
, pp. 1405
-
-
Christensen, K.1
Juel, K.2
Herskind, A.M.3
Murray, J.C.4
-
12
-
-
0029656077
-
Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - A Danish registry study
-
Christensen K, Mitchell LE. 1996. Familial recurrence-pattern analysis of nonsyndromic isolated cleft palate - a Danish registry study. Am J Hum Genet 58:182-190.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 182-190
-
-
Christensen, K.1
Mitchell, L.E.2
-
13
-
-
0031820442
-
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
-
Clifton-Bligh RJ, Wentworth JM, Heinz P, et al. 1998. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. Nat Genet 19:399-401.
-
(1998)
Nat Genet
, vol.19
, pp. 399-401
-
-
Clifton-Bligh, R.J.1
Wentworth, J.M.2
Heinz, P.3
-
14
-
-
0021134039
-
The load of genetic and partially generic disorders in man. Congenital anomalies: Estimates of detriment in terms of years of life lost and years of impaired life
-
Czeizel A, Sankaranarayanan K. 1984. The load of genetic and partially generic disorders in man. Congenital anomalies: estimates of detriment in terms of years of life lost and years of impaired life. Mutat Res 128:73-103.
-
(1984)
Mutat Res
, vol.128
, pp. 73-103
-
-
Czeizel, A.1
Sankaranarayanan, K.2
-
15
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
-
Dixon J, Edwards SJ, Gladwin AJ, et al. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
-
(1996)
Nat Genet
, vol.12
, pp. 130-136
-
-
Dixon, J.1
Edwards, S.J.2
Gladwin, A.J.3
-
16
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
Dode C, Levilliers J, Dupont JM, et al. 2003. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 33:463-465.
-
(2003)
Nat Genet
, vol.33
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
-
17
-
-
0029836633
-
First year-of-life mortality among infants with oral clefts: New York State, 1983-1990
-
Druschel CM, Hughes JP, Olsen CL. 1996. First year-of-life mortality among infants with oral clefts: New York State, 1983-1990. Cleft Palate Craniofac J 33:400-405.
-
(1996)
Cleft Palate Craniofac J
, vol.33
, pp. 400-405
-
-
Druschel, C.M.1
Hughes, J.P.2
Olsen, C.L.3
-
18
-
-
0034754536
-
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
-
Erickson RP, Dagenais SL, Caulder MS, et al. 2001. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations. J Med Genet 38:761-766.
-
(2001)
J Med Genet
, vol.38
, pp. 761-766
-
-
Erickson, R.P.1
Dagenais, S.L.2
Caulder, M.S.3
-
19
-
-
0026500144
-
Familial recurrence-pattern analysis of cleft lip with or without cleft palate
-
Farrall M, Holder S. 1992. Familial recurrence-pattern analysis of cleft lip with or without cleft palate. Am J Hum Genet 50:270-277.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 270-277
-
-
Farrall, M.1
Holder, S.2
-
20
-
-
0023694945
-
Palate development
-
Ferguson MWJ. 1988. Palate development. Dev Suppl 103:41-60.
-
(1988)
Dev Suppl
, vol.103
, pp. 41-60
-
-
Ferguson, M.W.J.1
-
21
-
-
0346121524
-
Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)
-
Fitze G, Appelt H, Konig IR, et al. 2003. Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR). Hum Mol Genet 12:3207-3214.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 3207-3214
-
-
Fitze, G.1
Appelt, H.2
Konig, I.R.3
-
22
-
-
10744227687
-
Identification of SATB2 as the cleft palate gene on 2q32-q33
-
FitzPatrick DR, Carr IM, McLaren L, et al. 2003. Identification of SATB2 as the cleft palate gene on 2q32-q33. Hum Mol Genet 12:2491-2501.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2491-2501
-
-
FitzPatrick, D.R.1
Carr, I.M.2
McLaren, L.3
-
24
-
-
18444369013
-
The structure of haplotype blocks in the human genome
-
Gabriel SB, Schaffner SF, Nguyen H, et al. 2002. The structure of haplotype blocks in the human genome. Science 296:2225-2229.
-
(2002)
Science
, vol.296
, pp. 2225-2229
-
-
Gabriel, S.B.1
Schaffner, S.F.2
Nguyen, H.3
-
25
-
-
0034090681
-
High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
-
Germer S, Holland MJ, Higuchi R. 2000. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR. Genome Res 10:258-266.
-
(2000)
Genome Res
, vol.10
, pp. 258-266
-
-
Germer, S.1
Holland, M.J.2
Higuchi, R.3
-
28
-
-
15844386165
-
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
-
Hahn H, Wicking C, Zaphiropoulous PG, et al. 1996. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841-851.
-
(1996)
Cell
, vol.85
, pp. 841-851
-
-
Hahn, H.1
Wicking, C.2
Zaphiropoulous, P.G.3
-
29
-
-
0027978110
-
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
-
Hastbacka J, de la Chapelle A, Mahtani MM, et al. 1994. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78:1073-1087.
-
(1994)
Cell
, vol.78
, pp. 1073-1087
-
-
Hastbacka, J.1
De La Chapelle, A.2
Mahtani, M.M.3
-
30
-
-
0345659216
-
A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis
-
Helms C, Cao L, Krueger JG, et al. 2003. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 35:349-356.
-
(2003)
Nat Genet
, vol.35
, pp. 349-356
-
-
Helms, C.1
Cao, L.2
Krueger, J.G.3
-
31
-
-
0028029930
-
Lods, wrods and mods: The interpretation of lod scores calculated under different models
-
Hodge SE, Elston RC. 1994. Lods, wrods and mods: the interpretation of lod scores calculated under different models. Genet Epidemiol 11:329-342.
-
(1994)
Genet Epidemiol
, vol.11
, pp. 329-342
-
-
Hodge, S.E.1
Elston, R.C.2
-
32
-
-
11144281643
-
Development Genome Anatomy Project (DGAP): Mapping genes that cause congenital anomalies
-
Herrick SR, Bosco AF, Bruns GA, et al. 2002. Development Genome Anatomy Project (DGAP): Mapping genes that cause congenital anomalies. Am J Hum Genet 71:297.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 297
-
-
Herrick, S.R.1
Bosco, A.F.2
Bruns, G.A.3
-
33
-
-
0033772073
-
Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
-
Horikawa Y, Oda N, Cox NJ, et al. 2000. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet 26:163-175.
-
(2000)
Nat Genet
, vol.26
, pp. 163-175
-
-
Horikawa, Y.1
Oda, N.2
Cox, N.J.3
-
35
-
-
10744233914
-
A tiling resolution DNA microarray with complete coverage of the human genome
-
Ishkanian AS, Malloff CA, Watson SK, et al. 2004. A tiling resolution DNA microarray with complete coverage of the human genome. Nat Genet 36:299-303.
-
(2004)
Nat Genet
, vol.36
, pp. 299-303
-
-
Ishkanian, A.S.1
Malloff, C.A.2
Watson, S.K.3
-
36
-
-
3542999277
-
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy
-
Janecke AR, Thompson DA, Utermann G, et al. 2004. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet 36:850-854.
-
(2004)
Nat Genet
, vol.36
, pp. 850-854
-
-
Janecke, A.R.1
Thompson, D.A.2
Utermann, G.3
-
37
-
-
0038545785
-
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate
-
Jezewski PA, Vieira AR, Nishimura C, et al. 2003. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 40:399-407.
-
(2003)
J Med Genet
, vol.40
, pp. 399-407
-
-
Jezewski, P.A.1
Vieira, A.R.2
Nishimura, C.3
-
38
-
-
0000361626
-
Embryology of the head and neck
-
Serafin D, Georgiade NG, editors. St. Louis, Mosby
-
Johnston MC, Sulik KK. 1984. Embryology of the head and neck. In: Serafin D, Georgiade NG, editors. Pediatric plastic surgery. St. Louis, Mosby. pp. 184-215.
-
(1984)
Pediatric Plastic Surgery
, pp. 184-215
-
-
Johnston, M.C.1
Sulik, K.K.2
-
39
-
-
0034969492
-
A nonsense mutation in MSX1 causes Witkop syndrome
-
Jumlongras D, Bei M, Stimson JM, et al. 2001. A nonsense mutation in MSX1 causes Witkop syndrome. Am J Hum Genet 69:67-74.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 67-74
-
-
Jumlongras, D.1
Bei, M.2
Stimson, J.M.3
-
40
-
-
18644374446
-
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
-
Kondo S, Schutte BC, Richardson RJ, et al. 2002. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet 32:285-289.
-
(2002)
Nat Genet
, vol.32
, pp. 285-289
-
-
Kondo, S.1
Schutte, B.C.2
Richardson, R.J.3
-
41
-
-
0035776497
-
Methods for genotyping single nucleotide polymorphisms
-
Kwok P-Y. 2001. Methods for genotyping single nucleotide polymorphisms. Annu Rev Genomics Hum Genet 2:235-258.
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 235-258
-
-
Kwok, P.-Y.1
-
42
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D. 1987. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
43
-
-
0037188510
-
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
-
Lettice LA, Horikoshi T, Heaney SJH, et al. 2002. Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 99:7548-7553.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 7548-7553
-
-
Lettice, L.A.1
Horikoshi, T.2
Heaney, S.J.H.3
-
44
-
-
0041805505
-
The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1
-
Liberfarb RM, Levy HP, Rose PS, et al. 2003. The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genet Med 5:21-27.
-
(2003)
Genet Med
, vol.5
, pp. 21-27
-
-
Liberfarb, R.M.1
Levy, H.P.2
Rose, P.S.3
-
45
-
-
0032231873
-
Association of MSX1 and TGFB3 with nonsyndromic clefting in humans
-
Lidral AC, Romitti PA, Basart AM, et al. 1998. Association of MSX1 and TGFB3 with nonsyndromic clefting in humans. Am J Hum Genet 63:557-568.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 557-568
-
-
Lidral, A.C.1
Romitti, P.A.2
Basart, A.M.3
-
46
-
-
0036528341
-
The role of MSX1 ,in human tooth agenesis
-
Lidral AC, Reising BC. 2002. The role of MSX1 ,in human tooth agenesis. J Dent Res 81:274-278.
-
(2002)
J Dent Res
, vol.81
, pp. 274-278
-
-
Lidral, A.C.1
Reising, B.C.2
-
47
-
-
0017668278
-
Incidence rates for cleft lip and palate in British Columbia 1952-71 for North American Indian, Japanese, Chinese and total populations: Secular trends over twenty years
-
Lowry RB, Trimble BK. 1977. Incidence rates for cleft lip and palate in British Columbia 1952-71 for North American Indian, Japanese, Chinese and total populations: secular trends over twenty years. Teratology 16:277-283.
-
(1977)
Teratology
, vol.16
, pp. 277-283
-
-
Lowry, R.B.1
Trimble, B.K.2
-
48
-
-
0030671069
-
Application of transmission disequilibrium tests to nonsyndromic oral clefts: Including candidate genes and environmental exposures in the models
-
Maestri NE, Beaty TH, Hetmanski J, et al. 1997. Application of transmission disequilibrium tests to nonsyndromic oral clefts: including candidate genes and environmental exposures in the models. Am J Med Genet 73:337-344.
-
(1997)
Am J Med Genet
, vol.73
, pp. 337-344
-
-
Maestri, N.E.1
Beaty, T.H.2
Hetmanski, J.3
-
49
-
-
0036079141
-
Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families
-
Marazita ML, Field LL, Cooper ME, et al. 2002. Genome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families. Am J Hum Genet 71:349-364.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 349-364
-
-
Marazita, M.L.1
Field, L.L.2
Cooper, M.E.3
-
50
-
-
3242672318
-
Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
-
Marazita ML, Murray JC, Lidral AC, et al. 2004. 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.
-
(2004)
Am J Hum Genet
, vol.75
, pp. 2
-
-
Marazita, M.L.1
Murray, J.C.2
Lidral, A.C.3
-
51
-
-
0033358667
-
Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping
-
McPeek MS, Srrahs A. 1999. Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping. Am J Hum Genet 65:858-875.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 858-875
-
-
McPeek, M.S.1
Srrahs, A.2
-
52
-
-
0018909527
-
Cleft lip +/- cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968
-
Melnick M, Bixler D, Fogh-Andersen P, Conneally PM. 1980. Cleft lip +/- cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet 6:83-97.
-
(1980)
Am J Med Genet
, vol.6
, pp. 83-97
-
-
Melnick, M.1
Bixler, D.2
Fogh-Andersen, P.3
Conneally, P.M.4
-
53
-
-
0030066784
-
Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands
-
Mitchell LE, Christensen K. 1996. Analysis of the recurrence patterns for nonsyndromic cleft lip with or without cleft palate in the families of 3,073 Danish probands. Am J Med Genet 61:371-376.
-
(1996)
Am J Med Genet
, vol.61
, pp. 371-376
-
-
Mitchell, L.E.1
Christensen, K.2
-
54
-
-
0030993005
-
Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: A reappraisal
-
Mitchell LE. 1997. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 14:231-240.
-
(1997)
Genet Epidemiol
, vol.14
, pp. 231-240
-
-
Mitchell, L.E.1
-
55
-
-
0021299179
-
Linkage and association
-
Morton, NE. 1984. Linkage and association. Prog Clin Biol Res 147:245-265.
-
(1984)
Prog Clin Biol Res
, vol.147
, pp. 245-265
-
-
Morton, N.E.1
-
56
-
-
0242670655
-
Epidemiology of oral clefts: An international perspective
-
Wyszynski DF, editor. New York: Oxford University Press
-
Mossey PA, Little J. 2002. Epidemiology of oral clefts: an international perspective. In: Wyszynski DF, editor. Cleft lip and palate: from origin to treatment. New York: Oxford University Press, pp. 127-158.
-
(2002)
Cleft Lip and Palate: From Origin to Treatment
, pp. 127-158
-
-
Mossey, P.A.1
Little, J.2
-
57
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density
-
Cooperative Human Linkage Center (CHLC)
-
Murray JC, Buetow KH, Webber JL, et al. 1994. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 265:2049-2054.
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.C.1
Buetow, K.H.2
Webber, J.L.3
-
58
-
-
0029050592
-
Face facts: Genes, environment, and clefts
-
Murray JC. 1995. Face facts: genes, environment, and clefts. Am J Hum Genet 57:227-232.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 227-232
-
-
Murray, J.C.1
-
59
-
-
8044220924
-
Clinical and epidemiologic studies of cleft lip and palate in the Philippines
-
Murray JC, Daack-Hirsch S, Buetow KH, et al. 1997. Clinical and epidemiologic studies of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 34:7-10.
-
(1997)
Cleft Palate Craniofac J
, vol.34
, pp. 7-10
-
-
Murray, J.C.1
Daack-Hirsch, S.2
Buetow, K.H.3
-
60
-
-
0036556368
-
Gene/environment causes of cleft lip and/or palate
-
Murray J. 2002. Gene/environment causes of cleft lip and/or palate. Clin Genet 61:248-256.
-
(2002)
Clin Genet
, vol.61
, pp. 248-256
-
-
Murray, J.1
-
61
-
-
3042842601
-
Cleft palate: Players, pathways, and pursuits
-
Murray JC, Schutte BC. 2004. Cleft palate: players, pathways, and pursuits. J Clin Invest 113:1676-1678.
-
(2004)
J Clin Invest
, vol.113
, pp. 1676-1678
-
-
Murray, J.C.1
Schutte, B.C.2
-
62
-
-
0036275126
-
BeadArray technology: Enabling an accurate, cost-effective approach to high-throughput genotyping
-
Oliphant A, Barker DL, Stuelpnagel JR, Chee MS. 2002. BeadArray technology: enabling an accurate, cost-effective approach to high-throughput genotyping. Biotechniques Suppl:56-58, 60-51.
-
(2002)
Biotechniques
, Issue.SUPPL.
, pp. 56-58
-
-
Oliphant, A.1
Barker, D.L.2
Stuelpnagel, J.R.3
Chee, M.S.4
-
64
-
-
0032472024
-
Estimating African American admixture proportions by use of population-specific alleles
-
Parra EJ, Marcini A, Akey J, et al. 1998. Estimating African American admixture proportions by use of population-specific alleles. Am J Hum Genet 63:1839-1851.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1839-1851
-
-
Parra, E.J.1
Marcini, A.2
Akey, J.3
-
65
-
-
17344371740
-
High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
-
Pinkel D, Segraves R, Sudar D, et al. 1998. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211.
-
(1998)
Nat Genet
, vol.20
, pp. 207-211
-
-
Pinkel, D.1
Segraves, R.2
Sudar, D.3
-
66
-
-
0034033146
-
Identification of susceptibility loci for nonsyndromic cleft Hp with or without cleft palate in a two stage genome scan of affected sib-pairs
-
Prescott NJ, Lees MM, Winter RM, Malcolm S. 2000. Identification of susceptibility loci for nonsyndromic cleft Hp with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 106:345-350.
-
(2000)
Hum Genet
, vol.106
, pp. 345-350
-
-
Prescott, N.J.1
Lees, M.M.2
Winter, R.M.3
Malcolm, S.4
-
67
-
-
0036799545
-
The allelic architecture of human disease genes: Common disease-common variant. . .or not?
-
Pritchard JK, Cox NJ. 2002. The allelic architecture of human disease genes: common disease-common variant. . .or not? Hum Mol Genet 11:2417-2423.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2417-2423
-
-
Pritchard, J.K.1
Cox, N.J.2
-
68
-
-
0027365374
-
Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: Evidence for autosomal major locus
-
Ray AK, Field LL, Marazita ML. 1993. Nonsyndromic cleft lip with or without cleft palate in West Bengal, India: evidence for autosomal major locus. Am J Hum Genet 52:1006-1011.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1006-1011
-
-
Ray, A.K.1
Field, L.L.2
Marazita, M.L.3
-
69
-
-
0025008677
-
Linkage strategies for genetically complex traits: II. The power of affected relative pairs
-
Risch N. 1990. Linkage strategies for genetically complex traits: II. The power of affected relative pairs. Am J Hum Geneti46:229-241.
-
(1990)
Am J Hum Geneti
, vol.46
, pp. 229-241
-
-
Risch, N.1
-
70
-
-
0029741063
-
The future of genetic studies of complex human diseases
-
Risch N, Merikangas K. 1996. The future of genetic studies of complex human diseases. Science 273:1516-1517.
-
(1996)
Science
, vol.273
, pp. 1516-1517
-
-
Risch, N.1
Merikangas, K.2
-
71
-
-
0344522713
-
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans
-
Robertson SP, Twigg SR, Sutherland-Smith AJ, et al. 2003. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet 33:487-491.
-
(2003)
Nat Genet
, vol.33
, pp. 487-491
-
-
Robertson, S.P.1
Twigg, S.R.2
Sutherland-Smith, A.J.3
-
72
-
-
0042329921
-
Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease
-
Sancandi M, Griseri P, Pesce B, et al. 2003. Single nucleotide polymorphic alleles in the 5′ region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease. J Med Genet 40:714-718.
-
(2003)
J Med Genet
, vol.40
, pp. 714-718
-
-
Sancandi, M.1
Griseri, P.2
Pesce, B.3
-
73
-
-
0028293311
-
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome
-
Sander A, Schmelzle R, Murray J. 1994. Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. Hum Mol Genet 3:575-578.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 575-578
-
-
Sander, A.1
Schmelzle, R.2
Murray, J.3
-
74
-
-
0036908801
-
Multiplex relative risk and estimation of the number of loci underlying an inherited disease
-
Schliekelman P, Slatkin M. 2002. Multiplex relative risk and estimation of the number of loci underlying an inherited disease. Am J Hum Genet 71:1369-1385.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1369-1385
-
-
Schliekelman, P.1
Slatkin, M.2
-
75
-
-
0032881718
-
The many faces and factors of orofacial clefts
-
Schutte BC, Murray JC. 1999. The many faces and factors of orofacial clefts. Hum Mol Genet 8:1853-1859.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1853-1859
-
-
Schutte, B.C.1
Murray, J.C.2
-
76
-
-
0035746665
-
Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: An update and literature review
-
Shaikh TH, Kurahashi H, Emanuel BS. 2001. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genet Med 3:6-13.
-
(2001)
Genet Med
, vol.3
, pp. 6-13
-
-
Shaikh, T.H.1
Kurahashi, H.2
Emanuel, B.S.3
-
77
-
-
0027377799
-
Transmission test for linkage disequilibrium: The insulin gene region and insulin-dependent diabetes mellitus (IDDM)
-
Spielman RS, McGinnis RE, Warren JE. 1993. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-516.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 506-516
-
-
Spielman, R.S.1
McGinnis, R.E.2
Warren, J.E.3
-
78
-
-
0035668985
-
The genetics and epigenetics of orofacial clefts
-
Spritz RA. 2001. The genetics and epigenetics of orofacial clefts. Curr Opin Pediatr 13:556-560.
-
(2001)
Curr Opin Pediatr
, vol.13
, pp. 556-560
-
-
Spritz, R.A.1
-
79
-
-
0038067849
-
Genome architecture catalyzes nonrecurrent chromosomal rearrangements
-
Stankiewicz P, Shaw CJ, Dapper JD, et al. 2003. Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet 72:1101-1116.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 1101-1116
-
-
Stankiewicz, P.1
Shaw, C.J.2
Dapper, J.D.3
-
80
-
-
0035017621
-
"Only skin deep": Health, resilience, and craniofacial care
-
Strauss RP. 2001. "Only skin deep": health, resilience, and craniofacial care. Cleft Palate Craniofac J 38:226-230.
-
(2001)
Cleft Palate Craniofac J
, vol.38
, pp. 226-230
-
-
Strauss, R.P.1
-
81
-
-
0034425423
-
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia
-
Suzuki K, Hu D, Bustos T, et al. 2000. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet 25:427-430.
-
(2000)
Nat Genet
, vol.25
, pp. 427-430
-
-
Suzuki, K.1
Hu, D.2
Bustos, T.3
-
82
-
-
2642522952
-
In a Vietnamese population MSX1 variants contribute to cleft lip and palate
-
Suzuki YJP, Machida J, Watanabe Y, et al. 2004. In a Vietnamese population MSX1 variants contribute to cleft lip and palate. Genet Med 6:117-125.
-
(2004)
Genet Med
, vol.6
, pp. 117-125
-
-
Suzuki, Y.J.P.1
Machida, J.2
Watanabe, Y.3
-
83
-
-
0041465867
-
Comparative analyses of multi-species sequences from targeted genomic regions
-
Thomas JW, Touchman JW, Blakesley RW, et al. 2003. Comparative analyses of multi-species sequences from targeted genomic regions. Nature 424:788-793.
-
(2003)
Nature
, vol.424
, pp. 788-793
-
-
Thomas, J.W.1
Touchman, J.W.2
Blakesley, R.W.3
-
84
-
-
0029064537
-
Mapping disease genes: Family-based association studies
-
Thomson G. 1995. Mapping disease genes: family-based association studies. Am J Hum Genet 57:487-498.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 487-498
-
-
Thomson, G.1
-
85
-
-
0034426036
-
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
-
van Bokhoven H, Celli J, Kayserili H, et al. 2000. Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 25:423-426.
-
(2000)
Nat Genet
, vol.25
, pp. 423-426
-
-
Van Bokhoven, H.1
Celli, J.2
Kayserili, H.3
-
86
-
-
0034028899
-
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans
-
van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. 2000. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans [Erratum appears in Nat Genet 2000;25:125]. Nat Genet 24:342-343.
-
(2000)
Nat Genet
, vol.24
, pp. 342-343
-
-
Van Den Boogaard, M.J.1
Dorland, M.2
Beemer, F.A.3
Van Amstel, H.K.4
-
87
-
-
0034026571
-
-
Erratum appears
-
van den Boogaard MJ, Dorland M, Beemer FA, van Amstel HK. 2000. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans [Erratum appears in Nat Genet 2000;25:125]. Nat Genet 24:342-343.
-
(2000)
Nat Genet
, vol.25
, pp. 125
-
-
-
88
-
-
0023235059
-
Incidence of cleft lip, cleft palate, and cleft lip and palate among races: A review
-
Vanderas AP. 1987. Incidence of cleft lip, cleft palate, and cleft lip and palate among races: a review. Cleft Palate J 24:216-225.
-
(1987)
Cleft Palate J
, vol.24
, pp. 216-225
-
-
Vanderas, A.P.1
-
89
-
-
0030017452
-
A human MSX1 homeodomain missense mutation causes selective tooth agenesis
-
Vastardis H, Karimbux N, Guthua SW, et al. 1996. A human MSX1 homeodomain missense mutation causes selective tooth agenesis [see comments]. Nat Genet 13:417-421.
-
(1996)
Nat Genet
, vol.13
, pp. 417-421
-
-
Vastardis, H.1
Karimbux, N.2
Guthua, S.W.3
-
90
-
-
0036953750
-
Genetic origins in a South American clefting population
-
Vieira A, Karras J, Orioli I, et al. 2002. Genetic origins in a South American clefting population. Clin Genet 62:458-463.
-
(2002)
Clin Genet
, vol.62
, pp. 458-463
-
-
Vieira, A.1
Karras, J.2
Orioli, I.3
-
93
-
-
10744232167
-
A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families
-
Wyszynski DF, Albacha-Hejazi H, Aldirani M, et al. 2003. A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families. Am J Med Genet 123A:140-147.
-
(2003)
Am J Med Genet
, vol.123 A
, pp. 140-147
-
-
Wyszynski, D.F.1
Albacha-Hejazi, H.2
Aldirani, M.3
-
94
-
-
0032400979
-
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*1
-
Yoshiura K-I, Machida J, Daack-Hirsch S, et al. 1998. 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*1. Genomics 54:231-240.
-
(1998)
Genomics
, vol.54
, pp. 231-240
-
-
Yoshiura, K.-I.1
Machida, J.2
Daack-Hirsch, S.3
-
95
-
-
10744229707
-
Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2
-
Zeiger JS, Hetmanski JB, Beaty TH, et al. 2003. Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2. Eur J Hum Genet 11:835-839.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 835-839
-
-
Zeiger, J.S.1
Hetmanski, J.B.2
Beaty, T.H.3
-
96
-
-
4143115809
-
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate
-
Zucchero TM, Cooper ME, Maher BS, et al. 2004. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Engl J Med 351:769-780.
-
(2004)
N Engl J Med
, vol.351
, pp. 769-780
-
-
Zucchero, T.M.1
Cooper, M.E.2
Maher, B.S.3
|