-
1
-
-
0142104868
-
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands
-
Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. 2003. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 24:1848-1853.
-
(2003)
Eur Heart J
, vol.24
, pp. 1848-1853
-
-
Alders, M.1
Jongbloed, R.2
Deelen, W.3
van den Wijngaard, A.4
Doevendans, P.5
Ten Cate, F.6
Regitz-Zagrosek, V.7
Vosberg, H.P.8
van Langen, I.9
Wilde, A.10
Dooijes, D.11
Mannens, M.12
-
2
-
-
0036556373
-
Genetics of population isolates
-
Arcos-Burgos M, Muenke M. 2002. Genetics of population isolates. Clin Genet 61:233-247.
-
(2002)
Clin Genet
, vol.61
, pp. 233-247
-
-
Arcos-Burgos, M.1
Muenke, M.2
-
3
-
-
0028269436
-
Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase
-
Arpaia E, Shahar M, Dadi H, Cohen A, Roifman CM. 1994. Defective T cell receptor signaling and CD8+ thymic selection in humans lacking zap-70 kinase. Cell 76:947-958.
-
(1994)
Cell
, vol.76
, pp. 947-958
-
-
Arpaia, E.1
Shahar, M.2
Dadi, H.3
Cohen, A.4
Roifman, C.M.5
-
4
-
-
0027474273
-
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity
-
Bech-Hansen NT, Pearce WG. 1993. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity. Am J Hum Genet 52:71-77.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 71-77
-
-
Bech-Hansen, N.T.1
Pearce, W.G.2
-
5
-
-
3543100236
-
Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23
-
Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. 1998a. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet 103:124-130.
-
(1998)
Hum Genet
, vol.103
, pp. 124-130
-
-
Bech-Hansen, N.T.1
Boycott, K.M.2
Gratton, K.J.3
Ross, D.A.4
Field, L.L.5
Pearce, W.G.6
-
6
-
-
0041104621
-
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11. 23 cause incomplete X-linked congenital stationary night blindness
-
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. 1998b. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11. 23 cause incomplete X-linked congenital stationary night blindness. Nat Genet 19:264-267.
-
(1998)
Nat Genet
, vol.19
, pp. 264-267
-
-
Bech-Hansen, N.T.1
Naylor, M.J.2
Maybaum, T.A.3
Pearce, W.G.4
Koop, B.5
Fishman, G.A.6
Mets, M.7
Musarella, M.A.8
Boycott, K.M.9
-
7
-
-
0031901426
-
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
-
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. 1998. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet 62:865-875.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 865-875
-
-
Boycott, K.M.1
Pearce, W.G.2
Musarella, M.A.3
Weleber, R.G.4
Maybaum, T.A.5
Birch, D.G.6
Miyake, Y.7
Young, R.S.8
Bech-Hansen, N.T.9
-
8
-
-
0033744810
-
Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F
-
Boycott KM, Pearce WG, Bech-Hansen NT. 2000. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol 35:204-213.
-
(2000)
Can J Ophthalmol
, vol.35
, pp. 204-213
-
-
Boycott, K.M.1
Pearce, W.G.2
Bech-Hansen, N.T.3
-
9
-
-
17744371655
-
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants
-
Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. 2001. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet 108:91-97.
-
(2001)
Hum Genet
, vol.108
, pp. 91-97
-
-
Boycott, K.M.1
Maybaum, T.A.2
Naylor, M.J.3
Weleber, R.G.4
Robitaille, J.5
Miyake, Y.6
Bergen, A.A.7
Pierpont, M.E.8
Pearce, W.G.9
Bech-Hansen, N.T.10
-
10
-
-
0034785350
-
The Tbox transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia
-
Braybrook C, Doudney K, Marcano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P. 2001. The Tbox 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
Arnason, A.4
Bjornsson, A.5
Patton, M.A.6
Goodfellow, P.J.7
Moore, G.E.8
Stanier, P.9
-
11
-
-
0028124225
-
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KC NA1
-
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. 1994. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KC NA1. Nat Genet 8:136-140.
-
(1994)
Nat Genet
, vol.8
, pp. 136-140
-
-
Browne, D.L.1
Gancher, S.T.2
Nutt, J.G.3
Brunt, E.R.4
Smith, E.A.5
Kramer, P.6
Litt, M.7
-
12
-
-
22044455177
-
A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia
-
Cader MZ, Steckley JL, Dyment DA, McLachlan RS, Ebers GC. 2005. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 65:156-158.
-
(2005)
Neurology
, vol.65
, pp. 156-158
-
-
Cader, M.Z.1
Steckley, J.L.2
Dyment, D.A.3
McLachlan, R.S.4
Ebers, G.C.5
-
13
-
-
0037224510
-
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects
-
Campbell C, Mitui M, Eng L, Coutinho G, Thorstenson Y, Gatti RA. 2003. ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects. Hum Mutat 21:80-85.
-
(2003)
Hum Mutat
, vol.21
, pp. 80-85
-
-
Campbell, C.1
Mitui, M.2
Eng, L.3
Coutinho, G.4
Thorstenson, Y.5
Gatti, R.A.6
-
14
-
-
0025098098
-
Hyperphosphatemia in infantile hypophosphatasia: Implications for carrier diagnosis and screening
-
Chodirker BN, Evans JA, Seargeant LE, Cheang MS, Greenberg CR. 1990. Hyperphosphatemia in infantile hypophosphatasia: Implications for carrier diagnosis and screening. Am J Hum Genet 46:280-285.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 280-285
-
-
Chodirker, B.N.1
Evans, J.A.2
Seargeant, L.E.3
Cheang, M.S.4
Greenberg, C.R.5
-
15
-
-
0031052947
-
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder
-
Chudley AE, McCullough C, McCullough DW. 1997. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: A newly described autosomal recessive disorder. Am J Med Genet 68:350-356.
-
(1997)
Am J Med Genet
, vol.68
, pp. 350-356
-
-
Chudley, A.E.1
McCullough, C.2
McCullough, D.W.3
-
16
-
-
0036578890
-
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensorydegeneration in Alstrom syndrome
-
Collin GB, Marshall JD, Ikeda A, So WV, Russell-Eggitt I, Maffei P, Beck S, Boerkoel CF, Sicolo N, Martin M, Nishina PM, Naggert JK. 2002. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensorydegeneration in Alstrom syndrome. Nat Genet 31:74-78.
-
(2002)
Nat Genet
, vol.31
, pp. 74-78
-
-
Collin, G.B.1
Marshall, J.D.2
Ikeda, A.3
So, W.V.4
Russell-Eggitt, I.5
Maffei, P.6
Beck, S.7
Boerkoel, C.F.8
Sicolo, N.9
Martin, M.10
Nishina, P.M.11
Naggert, J.K.12
-
17
-
-
0025918317
-
Hepatic dysfunction in Alstrom disease
-
Connolly MB, Jan JE, Couch RM, Wong LT, Dimmick JE, Rigg JM. 1991. Hepatic dysfunction in Alstrom disease. Am J Med Genet 40:421-424.
-
(1991)
Am J Med Genet
, vol.40
, pp. 421-424
-
-
Connolly, M.B.1
Jan, J.E.2
Couch, R.M.3
Wong, L.T.4
Dimmick, J.E.5
Rigg, J.M.6
-
18
-
-
0029922495
-
Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias
-
Damji KF, Allingham RR, Pollock SC, Small K, Lewis KE, Stajich JM, Yamaoka LH, Vance JM, Pericak-Vance MA. 1996. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. Arch Neurol 53:338-344.
-
(1996)
Arch Neurol
, vol.53
, pp. 338-344
-
-
Damji, K.F.1
Allingham, R.R.2
Pollock, S.C.3
Small, K.4
Lewis, K.E.5
Stajich, J.M.6
Yamaoka, L.H.7
Vance, J.M.8
Pericak-Vance, M.A.9
-
19
-
-
0028917831
-
CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report
-
de Almeida JC, Vargas FR, Barbosa-Neto JG, Llerena JC Jr. 1995. CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report. Am J Med Genet 55:19-20.
-
(1995)
Am J Med Genet
, vol.55
, pp. 19-20
-
-
de Almeida, J.C.1
Vargas, F.R.2
Barbosa-Neto, J.G.3
Llerena Jr., J.C.4
-
21
-
-
0007866477
-
Mennonites in Canada, 1786-1920
-
Toronto: Macmillan of Canada. p
-
Epp FH. 1974. Mennonites in Canada, 1786-1920: The History of a Separate People. Toronto: Macmillan of Canada. p 480.
-
(1974)
The History of a Separate People
, pp. 480
-
-
Epp, F.H.1
-
22
-
-
0019142926
-
X-linked mental retardation: Renpenning revisited
-
Fox P, Fox D, Gerrard JW. 1980. X-linked mental retardation: Renpenning revisited. Am J Med Genet 7:491-495.
-
(1980)
Am J Med Genet
, vol.7
, pp. 491-495
-
-
Fox, P.1
Fox, D.2
Gerrard, J.W.3
-
23
-
-
0025167818
-
Gilles de la Tourette syndrome is not linked to D2-dopamine receptor
-
Gelernter J, Pakstis AJ, Pauls DL, Kurlan R, Gancher ST, Civelli O, Grandy D, Kidd KK. 1990. Gilles de la Tourette syndrome is not linked to D2-dopamine receptor. Arch Gen Psychiatry 47:1073-1077.
-
(1990)
Arch Gen Psychiatry
, vol.47
, pp. 1073-1077
-
-
Gelernter, J.1
Pakstis, A.J.2
Pauls, D.L.3
Kurlan, R.4
Gancher, S.T.5
Civelli, O.6
Grandy, D.7
Kidd, K.K.8
-
24
-
-
0027503132
-
Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor
-
Gelernter J, Kennedy JL, Grandy DK, Zhou QY, Civelli O, Pauls DL, Pakstis A, Kurlan R, Sunahara RK, Niznik HB. 1993. Exclusion of close linkage of Tourette's syndrome to D1 dopamine receptor. Am J Psychiatry 150:449-453.
-
(1993)
Am J Psychiatry
, vol.150
, pp. 449-453
-
-
Gelernter, J.1
Kennedy, J.L.2
Grandy, D.K.3
Zhou, Q.Y.4
Civelli, O.5
Pauls, D.L.6
Pakstis, A.7
Kurlan, R.8
Sunahara, R.K.9
Niznik, H.B.10
-
25
-
-
0029563012
-
The dopamine transporter protein gene (SLC6A3): Primary linkage mapping and linkage studies in Tourette syndrome
-
Gelernter J, Vandenbergh D, Kruger SD, Pauls DL, Kurlan R, Pakstis AJ, Kidd KK, Uhl G. 1995. The dopamine transporter protein gene (SLC6A3): Primary linkage mapping and linkage studies in Tourette syndrome. Genomics 30:459-463.
-
(1995)
Genomics
, vol.30
, pp. 459-463
-
-
Gelernter, J.1
Vandenbergh, D.2
Kruger, S.D.3
Pauls, D.L.4
Kurlan, R.5
Pakstis, A.J.6
Kidd, K.K.7
Uhl, G.8
-
26
-
-
0018630996
-
Abnormal lymphocyte capping in a patient with severe combined immunodeficiency disease
-
Gelfand EW, Oliver JM, Schuurman RK, Matheson DS, Dosch HM. 1979. Abnormal lymphocyte capping in a patient with severe combined immunodeficiency disease. N Engl J Med 301:1245-1249.
-
(1979)
N Engl J Med
, vol.301
, pp. 1245-1249
-
-
Gelfand, E.W.1
Oliver, J.M.2
Schuurman, R.K.3
Matheson, D.S.4
Dosch, H.M.5
-
27
-
-
0026769167
-
The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DX YS1
-
Gorski SM, Adams KJ, Birch PH, Friedman JM, Goodfellow PJ. 1992. The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DX YS1. Am J Hum Genet 50:1129-1136.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1129-1136
-
-
Gorski, S.M.1
Adams, K.J.2
Birch, P.H.3
Friedman, J.M.4
Goodfellow, P.J.5
-
28
-
-
0028168058
-
Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds
-
Gorski SM, Adams KJ, Birch PH, Chodirker BN, Greenberg CR, Goodfellow PJ. 1994. Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia Native kindreds. Hum Genet 94:141-148.
-
(1994)
Hum Genet
, vol.94
, pp. 141-148
-
-
Gorski, S.M.1
Adams, K.J.2
Birch, P.H.3
Chodirker, B.N.4
Greenberg, C.R.5
Goodfellow, P.J.6
-
29
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco CM, Hagerman RJ, Tassone F, Chudley AE, Del Bigio MR, Jacquemont S, Leehey M, Hagerman PJ. 2002. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125:1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
30
-
-
0025181430
-
Infantile hypophosphatasia: Localization within chromosome region 1p36. 1-34 and prenatal diagnosis using linked DNA markers
-
Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, Chodirker BN. 1990. Infantile hypophosphatasia: Localization within chromosome region 1p36. 1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 46:286-292.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 286-292
-
-
Greenberg, C.R.1
Evans, J.A.2
McKendry-Smith, S.3
Redekopp, S.4
Haworth, J.C.5
Mulivor, R.6
Chodirker, B.N.7
-
31
-
-
55449137257
-
Detection of mutations causing hypophosphatasia in Canadian Mennonites
-
Greenberg CR, Taylor CLD, Haworth JC, Philipps S, Seargent LE, Triggs-Raine B, Chodirker BN. 1991. Detection of mutations causing hypophosphatasia in Canadian Mennonites. Am J Hum Genet 51:A169.
-
(1991)
Am J Hum Genet
, vol.51
-
-
Greenberg, C.R.1
Taylor, C.L.D.2
Haworth, J.C.3
Philipps, S.4
Seargent, L.E.5
Triggs-Raine, B.6
Chodirker, B.N.7
-
32
-
-
0027337157
-
A homoallelic Gly317->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites
-
Greenberg CR, Taylor CL, Haworth JC, Seargeant LE, Philipps S, Triggs-Raine B, Chodirker BN. 1993. A homoallelic Gly317->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17:215-217.
-
(1993)
Genomics
, vol.17
, pp. 215-217
-
-
Greenberg, C.R.1
Taylor, C.L.2
Haworth, J.C.3
Seargeant, L.E.4
Philipps, S.5
Triggs-Raine, B.6
Chodirker, B.N.7
-
33
-
-
1842562945
-
Kanadier Mennonites: A case study examining research challenges among religious groups
-
Hall BL, Kulig JC. 2004. Kanadier Mennonites: A case study examining research challenges among religious groups. Qual Health Res 14:359-368.
-
(2004)
Qual Health Res
, vol.14
, pp. 359-368
-
-
Hall, B.L.1
Kulig, J.C.2
-
34
-
-
0004226825
-
Principles of Population Genetics
-
Sunderland, MA: Sinauer Associates. p
-
Hartl DL, Clark AG. 1997. Principles of Population Genetics. 3rd editon. Sunderland, MA: Sinauer Associates. p 542.
-
(1997)
3rd editon
, pp. 542
-
-
Hartl, D.L.1
Clark, A.G.2
-
36
-
-
18544391142
-
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
-
Hearn T, Renforth GL, Spalluto C, Hanley NA, Piper K, Brickwood S, White C, Connolly V, Taylor JF, Russell-Eggitt I, Bonneau D, Walker M, Wilson DI. 2002. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 31:79-83.
-
(2002)
Nat Genet
, vol.31
, pp. 79-83
-
-
Hearn, T.1
Renforth, G.L.2
Spalluto, C.3
Hanley, N.A.4
Piper, K.5
Brickwood, S.6
White, C.7
Connolly, V.8
Taylor, J.F.9
Russell-Eggitt, I.10
Bonneau, D.11
Walker, M.12
Wilson, D.I.13
-
37
-
-
0033543482
-
Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters
-
Hendriks YM, Laan LA, Vielvoye GJ, van Haeringen A. 1999. Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters. Am J Med Genet 86:183-186.
-
(1999)
Am J Med Genet
, vol.86
, pp. 183-186
-
-
Hendriks, Y.M.1
Laan, L.A.2
Vielvoye, G.J.3
van Haeringen, A.4
-
38
-
-
0017903489
-
Geroderma osteodysplastica. A report of two affected families
-
Hunter AG, Martsolf JT, Baker CG, Reed MH. 1978. Geroderma osteodysplastica. A report of two affected families. Hum Genet 40:311-324.
-
(1978)
Hum Genet
, vol.40
, pp. 311-324
-
-
Hunter, A.G.1
Martsolf, J.T.2
Baker, C.G.3
Reed, M.H.4
-
39
-
-
0020040083
-
Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo-renal-cerebellar syndrome
-
Hunter AG, Jurenka S, Thompson D, Evans JA. 1982. Absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy: An autosomal recessive oculo-renal-cerebellar syndrome. Am J Med Genet 11:383-395.
-
(1982)
Am J Med Genet
, vol.11
, pp. 383-395
-
-
Hunter, A.G.1
Jurenka, S.2
Thompson, D.3
Evans, J.A.4
-
41
-
-
0026547987
-
Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency
-
Imai T, Yanase T, Waterman MR, Simpson ER, Pratt JJ. 1992. Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. Hum Genet 89:95-96.
-
(1992)
Hum Genet
, vol.89
, pp. 95-96
-
-
Imai, T.1
Yanase, T.2
Waterman, M.R.3
Simpson, E.R.4
Pratt, J.J.5
-
42
-
-
0035934014
-
-
Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. 2001. Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature. Am J Med Genet 102:44-47.
-
Innes AM, Chudley AE, Reed MH, Shuckett EP, Hildes-Ripstein GE, Greenberg CR. 2001. Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature. Am J Med Genet 102:44-47.
-
-
-
-
43
-
-
33744517537
-
Hyperbilirubinemia due to an alternate path of Bilirubin production
-
Israels LG, Suderman HJ, Ritzmann SE. 1959. Hyperbilirubinemia due to an alternate path of Bilirubin production. Am J Med 27:693-702.
-
(1959)
Am J Med
, vol.27
, pp. 693-702
-
-
Israels, L.G.1
Suderman, H.J.2
Ritzmann, S.E.3
-
44
-
-
0019206072
-
X-linked mental retardation: A study of 7 families
-
Jacobs PA, Glover TW, Mayer M, Fox P, Gerrard JW, Dunn HG, Herbst DS. 1980. X-linked mental retardation: A study of 7 families. Am J Med Genet 7:471-489.
-
(1980)
Am J Med Genet
, vol.7
, pp. 471-489
-
-
Jacobs, P.A.1
Glover, T.W.2
Mayer, M.3
Fox, P.4
Gerrard, J.W.5
Dunn, H.G.6
Herbst, D.S.7
-
45
-
-
55449093186
-
Familial aggregation of insulin-dependent diabetes mellitus: Roots in Europe, branches in North, Central and South America
-
Jaworski MA, Molnar GD, Rajotte RD, Singh B, editors, Amsterdam: Elsevier Science Publishers. p
-
Jaworski MA, Slater JD, Hennig K, Schlaut J. 1986. Familial aggregation of insulin-dependent diabetes mellitus: Roots in Europe, branches in North, Central and South America. In: Jaworski MA, Molnar GD, Rajotte RD, Singh B, editors. The immunology of diabetes mellitus. Amsterdam: Elsevier Science Publishers. p 37-44.
-
(1986)
The immunology of diabetes mellitus
, pp. 37-44
-
-
Jaworski, M.A.1
Slater, J.D.2
Hennig, K.3
Schlaut, J.4
-
46
-
-
0023893429
-
Unusual clustering of diseases in a Canadian Old Colony (Chortitza) Mennonite kindred and community
-
Jaworski MA, Slater JD, Severini A, Hennig KR, Mansour G, Mehta JG, Jeske R, Schlaut J, Pak CY, Yoon JW. 1988. Unusual clustering of diseases in a Canadian Old Colony (Chortitza) Mennonite kindred and community. CMAJ 138:1017-1025.
-
(1988)
CMAJ
, vol.138
, pp. 1017-1025
-
-
Jaworski, M.A.1
Slater, J.D.2
Severini, A.3
Hennig, K.R.4
Mansour, G.5
Mehta, J.G.6
Jeske, R.7
Schlaut, J.8
Pak, C.Y.9
Yoon, J.W.10
-
47
-
-
0024504170
-
Inherited diseases in North American Mennonites: Focus on Old Colony (Chortitza) Mennonites
-
Jaworski MA, Severini A, Mansour G, Hennig K, Slater JD, Jeske R, Schlaut J, Yoon JW, Maclaren NK,NepomGT. 1989a. Inherited diseases in North American Mennonites: Focus on Old Colony (Chortitza) Mennonites. Am J Med Genet 32:158-168.
-
(1989)
Am J Med Genet
, vol.32
, pp. 158-168
-
-
Jaworski, M.A.1
Severini, A.2
Mansour, G.3
Hennig, K.4
Slater, J.D.5
Jeske, R.6
Schlaut, J.7
Yoon, J.W.8
Maclaren, N.K.9
Nepom, G.T.10
-
48
-
-
0024522409
-
Genetic conditions among Canadian Mennonites: Evidence for a founder effect among the old colony (Chortitza) Mennonites
-
Jaworski MA, Severini A, Mansour G, Konrad HM, Slater J, Hennig K, Schlaut J, Yoon JW, Pak CY, Maclaren N. 1989b. Genetic conditions among Canadian Mennonites: Evidence for a founder effect among the old colony (Chortitza) Mennonites. Clin Invest Med 12:127-141.
-
(1989)
Clin Invest Med
, vol.12
, pp. 127-141
-
-
Jaworski, M.A.1
Severini, A.2
Mansour, G.3
Konrad, H.M.4
Slater, J.5
Hennig, K.6
Schlaut, J.7
Yoon, J.W.8
Pak, C.Y.9
Maclaren, N.10
-
49
-
-
0023943706
-
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: Molecular basis of one example of combined 17 alpha-hydroxylase/17, 20 lyase deficiency
-
Kagimoto M, Winter JS, Kagimoto K, Simpson ER, Waterman MR. 1988. Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: Molecular basis of one example of combined 17 alpha-hydroxylase/17, 20 lyase deficiency. Mol Endocrinol 2:564-570.
-
(1988)
Mol Endocrinol
, vol.2
, pp. 564-570
-
-
Kagimoto, M.1
Winter, J.S.2
Kagimoto, K.3
Simpson, E.R.4
Waterman, M.R.5
-
50
-
-
0024323199
-
Identification of a common molecular basis for combined 17 alpha-hydroxylase/17, 20-lyase deficiency in two Mennonite families
-
Kagimoto K, Waterman MR, Kagimoto M, Ferreira P, Simpson ER, Winter JS. 1989. Identification of a common molecular basis for combined 17 alpha-hydroxylase/17, 20-lyase deficiency in two Mennonite families. Hum Genet 82:285-286.
-
(1989)
Hum Genet
, vol.82
, pp. 285-286
-
-
Kagimoto, K.1
Waterman, M.R.2
Kagimoto, M.3
Ferreira, P.4
Simpson, E.R.5
Winter, J.S.6
-
51
-
-
0026664517
-
Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons
-
Kirkilionis AJ, Chudley AE, Greenberg CR, Yan DL, McGillivray B, Hamerton JL. 1992. Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons. Am J Med Genet 43:588-591.
-
(1992)
Am J Med Genet
, vol.43
, pp. 588-591
-
-
Kirkilionis, A.J.1
Chudley, A.E.2
Greenberg, C.R.3
Yan, D.L.4
McGillivray, B.5
Hamerton, J.L.6
-
52
-
-
0022455402
-
Familial Tourette's syndrome: Report of a large pedigree and potential for linkage analysis
-
Kurlan R, Behr J, Medved L, Shoulson I, Pauls D, Kidd JR, Kidd KK. 1986. Familial Tourette's syndrome: Report of a large pedigree and potential for linkage analysis. Neurology 36:772-776.
-
(1986)
Neurology
, vol.36
, pp. 772-776
-
-
Kurlan, R.1
Behr, J.2
Medved, L.3
Shoulson, I.4
Pauls, D.5
Kidd, J.R.6
Kidd, K.K.7
-
53
-
-
0023112120
-
Severity of Tourette's syndrome in one large kindred. Implication for determination of disease prevalence rate
-
Kurlan R, Behr J, Medved L, Shoulson I, Pauls D, Kidd KK. 1987. Severity of Tourette's syndrome in one large kindred. Implication for determination of disease prevalence rate. Arch Neurol 44:268-269.
-
(1987)
Arch Neurol
, vol.44
, pp. 268-269
-
-
Kurlan, R.1
Behr, J.2
Medved, L.3
Shoulson, I.4
Pauls, D.5
Kidd, K.K.6
-
54
-
-
0030927622
-
Missense mutations abolishingDNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
-
Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. 1997. Missense mutations abolishingDNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310.
-
(1997)
Nat Genet
, vol.16
, pp. 307-310
-
-
Lee, B.1
Thirunavukkarasu, K.2
Zhou, L.3
Pastore, L.4
Baldini, A.5
Hecht, J.6
Geoffroy, V.7
Ducy, P.8
Karsenty, G.9
-
55
-
-
0034677217
-
Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities
-
Lemire EG, Stoeber GP. 2000. Chudley-McCullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities. Am J Med Genet 90:127-130.
-
(2000)
Am J Med Genet
, vol.90
, pp. 127-130
-
-
Lemire, E.G.1
Stoeber, G.P.2
-
56
-
-
0032559179
-
SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities
-
Lemire EG, Hildes-Ripstein GE, Reed MH, Chudley AE. 1998. SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. Am J Med Genet 75:256-260.
-
(1998)
Am J Med Genet
, vol.75
, pp. 256-260
-
-
Lemire, E.G.1
Hildes-Ripstein, G.E.2
Reed, M.H.3
Chudley, A.E.4
-
57
-
-
12144288873
-
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly
-
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE. 2004. Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. Am J Hum Genet 74:777-780.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 777-780
-
-
Lenski, C.1
Abidi, F.2
Meindl, A.3
Gibson, A.4
Platzer, M.5
Frank Kooy, R.6
Lubs, H.A.7
Stevenson, R.E.8
Ramser, J.9
Schwartz, C.E.10
-
58
-
-
0018188611
-
A 'new' blood group antigen Fra: Incidence, inheritance and genetic linkage analysis
-
Lewis M, Kaita H, McAlpine PJ, Fletcher J, Moulds JJ. 1978. A 'new' blood group antigen Fra: Incidence, inheritance and genetic linkage analysis. Vox Sang 35:251-254.
-
(1978)
Vox Sang
, vol.35
, pp. 251-254
-
-
Lewis, M.1
Kaita, H.2
McAlpine, P.J.3
Fletcher, J.4
Moulds, J.J.5
-
59
-
-
0022388841
-
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds
-
Lowry RB, Machin GA, Morgan K, Mayock D, Marx L. 1985. Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: A fatal syndrome in Hutterite and Mennonite kindreds. Am J Med Genet 22:531-543.
-
(1985)
Am J Med Genet
, vol.22
, pp. 531-543
-
-
Lowry, R.B.1
Machin, G.A.2
Morgan, K.3
Mayock, D.4
Marx, L.5
-
61
-
-
33744825259
-
Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley-McCullough syndrome
-
Matteucci F, Tarantino E, Bianchi MC, Cingolani C, Fattori B, Nacci A, Ursino F. 2006. Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: The Chudley-McCullough syndrome. Am J Med Genet Part A 140A:1183-1188.
-
(2006)
Am J Med Genet
, vol.140 A
, Issue.PART A
, pp. 1183-1188
-
-
Matteucci, F.1
Tarantino, E.2
Bianchi, M.C.3
Cingolani, C.4
Fattori, B.5
Nacci, A.6
Ursino, F.7
-
62
-
-
0033794324
-
An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism
-
McManus K, Lupe K, Coghlan G, Zelinski T. 2000. An amino acid substitution in the putative second extracellular loop of RBC band 3 accounts for the Froese blood group polymorphism. Transfusion 40:1246-1249.
-
(2000)
Transfusion
, vol.40
, pp. 1246-1249
-
-
McManus, K.1
Lupe, K.2
Coghlan, G.3
Zelinski, T.4
-
63
-
-
27644533386
-
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia
-
Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti RA. 2005. ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia. Ann Hum Genet 69:657-664.
-
(2005)
Ann Hum Genet
, vol.69
, pp. 657-664
-
-
Mitui, M.1
Bernatowska, E.2
Pietrucha, B.3
Piotrowska-Jastrzebska, J.4
Eng, L.5
Nahas, S.6
Teraoka, S.7
Sholty, G.8
Purayidom, A.9
Concannon, P.10
Gatti, R.A.11
-
64
-
-
0041317711
-
-
Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. 2003. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet Part C Semin Med Genet 121C:5-17.
-
Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. 2003. Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet Part C Semin Med Genet 121C:5-17.
-
-
-
-
65
-
-
30844451421
-
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy
-
Moulson CL, Go G, Gardner JM, van der Wal AC, Smitt JH, van Hagen JM, Miner JH. 2005. Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 125:913-919.
-
(2005)
J Invest Dermatol
, vol.125
, pp. 913-919
-
-
Moulson, C.L.1
Go, G.2
Gardner, J.M.3
van der Wal, A.C.4
Smitt, J.H.5
van Hagen, J.M.6
Miner, J.H.7
-
66
-
-
15444351110
-
Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
-
Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
-
(1997)
Cell
, vol.89
, pp. 773-779
-
-
Mundlos, S.1
Otto, F.2
Mundlos, C.3
Mulliken, J.B.4
Aylsworth, A.S.5
Albright, S.6
Lindhout, D.7
Cole, W.G.8
Henn, W.9
Knoll, J.H.10
Owen, M.J.11
Mertelsmann, R.12
Zabel, B.U.13
Olsen, B.R.14
-
67
-
-
19544374472
-
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
-
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. 2004. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13:2493-2503.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2493-2503
-
-
Navarro, C.L.1
De Sandre-Giovannoli, A.2
Bernard, R.3
Boccaccio, I.4
Boyer, A.5
Genevieve, D.6
Hadj-Rabia, S.7
Gaudy-Marqueste, C.8
Smitt, H.S.9
Vabres, P.10
Faivre, L.11
Verloes, A.12
Van Essen, T.13
Flori, E.14
Hennekam, R.15
Beemer, F.A.16
Laurent, N.17
Le Merrer, M.18
Cau, P.19
Levy, N.20
more..
-
68
-
-
0032580520
-
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
-
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. 1998. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338:1248-1257.
-
(1998)
N Engl J Med
, vol.338
, pp. 1248-1257
-
-
Niimura, H.1
Bachinski, L.L.2
Sangwatanaroj, S.3
Watkins, H.4
Chudley, A.E.5
McKenna, W.6
Kristinsson, A.7
Roberts, R.8
Sole, M.9
Maron, B.J.10
Seidman, J.G.11
Seidman, C.E.12
-
69
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1 A4
-
Ophoff RA, Terwindt GM, Vergouwe MN, van Eijk R, Oefner PJ, Hoffman SM, Lamerdin JE, Mohrenweiser HW, Bulman DE, Ferrari M, Haan J, Lindhout D, van Ommen GJ, Hofker MH, Ferrari MD, Frants RR. 1996. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1 A4. Cell 87:543-552.
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.6
Lamerdin, J.E.7
Mohrenweiser, H.W.8
Bulman, D.E.9
Ferrari, M.10
Haan, J.11
Lindhout, D.12
van Ommen, G.J.13
Hofker, M.H.14
Ferrari, M.D.15
Frants, R.R.16
-
70
-
-
0942276987
-
Brothers with Chudley-McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities
-
Ostergaard E, Pedersen VF, Skriver EB, Brondum-Nielsen K. 2004. Brothers with Chudley-McCullough syndrome: Sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. Am J Med Genet Part A 124A:74-78.
-
(2004)
Am J Med Genet
, vol.124 A
, Issue.PART A
, pp. 74-78
-
-
Ostergaard, E.1
Pedersen, V.F.2
Skriver, E.B.3
Brondum-Nielsen, K.4
-
71
-
-
0025274526
-
Variable expressivity in X-linked congenital stationary night blindness
-
Pearce WG, Reedyk M, Coupland SG. 1990. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol 25:3-10.
-
(1990)
Can J Ophthalmol
, vol.25
, pp. 3-10
-
-
Pearce, W.G.1
Reedyk, M.2
Coupland, S.G.3
-
72
-
-
0042508737
-
-
Puffenberger EG. 2003. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet Part C Semin Med Genet 121C:18-31.
-
Puffenberger EG. 2003. Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania. Am J Med Genet Part C Semin Med Genet 121C:18-31.
-
-
-
-
74
-
-
55449090550
-
Mennonites in Canada, 1939-1970
-
Toronto: University of Toronto Press
-
Regehr TD. 1996. Mennonites in Canada, 1939-1970: A people transformed. Toronto: University of Toronto Press.
-
(1996)
A people transformed
-
-
Regehr, T.D.1
-
76
-
-
0009631324
-
Multiple skeletal, genital and ear anomalies in a patient with presumed normal intelligence: A newly recognized autosomal recessive entity?
-
Schrander-Stumpel CT, van Langen I, Reekers A, Bulstra SK, Fryns JP. 1998. Multiple skeletal, genital and ear anomalies in a patient with presumed normal intelligence: A newly recognized autosomal recessive entity? Proc Greenwood Genet Centre 17:56-57.
-
(1998)
Proc Greenwood Genet Centre
, vol.17
, pp. 56-57
-
-
Schrander-Stumpel, C.T.1
van Langen, I.2
Reekers, A.3
Bulstra, S.K.4
Fryns, J.P.5
-
78
-
-
0030064170
-
Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family
-
Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg CR. 1996. Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology 84:322-329.
-
(1996)
Anesthesiology
, vol.84
, pp. 322-329
-
-
Serfas, K.D.1
Bose, D.2
Patel, L.3
Wrogemann, K.4
Phillips, M.S.5
MacLennan, D.H.6
Greenberg, C.R.7
-
79
-
-
0025741238
-
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome - A case report
-
Shebib SM, Reed MH, Shuckett EP, Cross HG, Perry JB, Chudley AE. 1991. Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome - A case report. Am J Med Genet 40:88-93.
-
(1991)
Am J Med Genet
, vol.40
, pp. 88-93
-
-
Shebib, S.M.1
Reed, M.H.2
Shuckett, E.P.3
Cross, H.G.4
Perry, J.B.5
Chudley, A.E.6
-
80
-
-
0031790040
-
Use of isolated inbred human populations for identification of disease genes
-
Sheffield VC, Stone EM, Carmi R. 1998. Use of isolated inbred human populations for identification of disease genes. Trends Genet 14:391-396.
-
(1998)
Trends Genet
, vol.14
, pp. 391-396
-
-
Sheffield, V.C.1
Stone, E.M.2
Carmi, R.3
-
81
-
-
0027328095
-
The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X
-
Stanier P, Forbes SA, Arnason A, Bjornsson A, Sveinbjornsdottir E, Williamson R, Moore G. 1993. The localization of a gene causing X-linked cleft palate and ankyloglossia (CPX) in an Icelandic kindred is between DXS326 and DXYS1X. Genomics 17:549-555.
-
(1993)
Genomics
, vol.17
, pp. 549-555
-
-
Stanier, P.1
Forbes, S.A.2
Arnason, A.3
Bjornsson, A.4
Sveinbjornsdottir, E.5
Williamson, R.6
Moore, G.7
-
82
-
-
0035940624
-
An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus
-
Steckley JL, Ebers GC, Cader MZ, McLachlan RS. 2001. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 57:1499-1502.
-
(2001)
Neurology
, vol.57
, pp. 1499-1502
-
-
Steckley, J.L.1
Ebers, G.C.2
Cader, M.Z.3
McLachlan, R.S.4
-
83
-
-
0031982141
-
Renpenning syndrome maps to Xp11
-
Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. 1998. Renpenning syndrome maps to Xp11. Am J Hum Genet 62:1092-1101.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1092-1101
-
-
Stevenson, R.E.1
Arena, J.F.2
Ouzts, E.3
Gibson, A.4
Shokeir, M.H.5
Vnencak-Jones, C.6
Lubs, H.A.7
May, M.8
Schwartz, C.E.9
-
84
-
-
17344366487
-
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
-
Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. 1998. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 19:260-263.
-
(1998)
Nat Genet
, vol.19
, pp. 260-263
-
-
Strom, T.M.1
Nyakatura, G.2
Apfelstedt-Sylla, E.3
Hellebrand, H.4
Lorenz, B.5
Weber, B.H.6
Wutz, K.7
Gutwillinger, N.8
Ruther, K.9
Drescher, B.10
Sauer, C.11
Zrenner, E.12
Meitinger, T.13
Rosenthal, A.14
Meindl, A.15
-
85
-
-
19944416258
-
Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria
-
Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA. 2005. Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. Am J Med Genet Part A 135A:289-291.
-
(2005)
Am J Med Genet
, vol.135 A
, Issue.PART A
, pp. 289-291
-
-
Tadiboyina, V.T.1
Rupar, A.2
Atkison, P.3
Feigenbaum, A.4
Kronick, J.5
Wang, J.6
Hegele, R.A.7
-
86
-
-
0037100016
-
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive "SAMS" syndrome
-
ter Heide H, Bulstra SK, Reekers A, Schrander JJ, Schrander-Stumpel CT. 2002. Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive "SAMS" syndrome. Am J Med Genet 110:359-364.
-
(2002)
Am J Med Genet
, vol.110
, pp. 359-364
-
-
ter Heide, H.1
Bulstra, S.K.2
Reekers, A.3
Schrander, J.J.4
Schrander-Stumpel, C.T.5
-
87
-
-
0018574163
-
Cytogenetic findings in Roberts-SC phocomelia syndrome(s)
-
Tomkins D, Hunter A, Roberts M. 1979. Cytogenetic findings in Roberts-SC phocomelia syndrome(s). Am J Med Genet 4:17-26.
-
(1979)
Am J Med Genet
, vol.4
, pp. 17-26
-
-
Tomkins, D.1
Hunter, A.2
Roberts, M.3
-
88
-
-
0033305688
-
Prevalence of mild apparent mineralocorticoid excess in Mennonites
-
Ugrasbul F, Wiens T, Rubinstein P, New MI, Wilson RC. 1999. Prevalence of mild apparent mineralocorticoid excess in Mennonites. J Clin Endocrinol Metab 84:4735-4738.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4735-4738
-
-
Ugrasbul, F.1
Wiens, T.2
Rubinstein, P.3
New, M.I.4
Wilson, R.C.5
-
89
-
-
20944444999
-
Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion
-
Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Wang Jabs E, Inui K, Joenje H. 2005. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. Nat Genet 37:468-470.
-
(2005)
Nat Genet
, vol.37
, pp. 468-470
-
-
Vega, H.1
Waisfisz, Q.2
Gordillo, M.3
Sakai, N.4
Yanagihara, I.5
Yamada, M.6
van Gosliga, D.7
Kayserili, H.8
Xu, C.9
Ozono, K.10
Wang Jabs, E.11
Inui, K.12
Joenje, H.13
-
90
-
-
0041320751
-
Chudley-McCullough syndrome: Expanded phenotype and review of the literature
-
Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. 2003. Chudley-McCullough syndrome: Expanded phenotype and review of the literature. Am J Med Genet Part A 119A:71-76.
-
(2003)
Am J Med Genet
, vol.119 A
, Issue.PART A
, pp. 71-76
-
-
Welch, K.O.1
Tekin, M.2
Nance, W.E.3
Blanton, S.H.4
Arnos, K.S.5
Pandya, A.6
-
91
-
-
13144265720
-
A genetic defect resulting in mild low-renin hypertension
-
Wilson RC, Dave-Sharma S, Wei JQ, Obeyesekere VR, Li K, Ferrari P, Krozowski ZS, Shackleton CH, Bradlow L, Wiens T, New MI. 1998. A genetic defect resulting in mild low-renin hypertension. Proc Natl Acad Sci USA 95:10200-10205.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 10200-10205
-
-
Wilson, R.C.1
Dave-Sharma, S.2
Wei, J.Q.3
Obeyesekere, V.R.4
Li, K.5
Ferrari, P.6
Krozowski, Z.S.7
Shackleton, C.H.8
Bradlow, L.9
Wiens, T.10
New, M.I.11
-
92
-
-
0024498227
-
Combined 17-hydroxylase and 17, 20-desmolase deficiencies: Evidence for synthesis of a defective cytochrome P450c17
-
Winter JS, Couch RM, Muller J, Perry YS, Ferreira P, Baydala L, Shackleton CH. 1989. Combined 17-hydroxylase and 17, 20-desmolase deficiencies: Evidence for synthesis of a defective cytochrome P450c17. J Clin Endocrinol Metab 68:309-316.
-
(1989)
J Clin Endocrinol Metab
, vol.68
, pp. 309-316
-
-
Winter, J.S.1
Couch, R.M.2
Muller, J.3
Perry, Y.S.4
Ferreira, P.5
Baydala, L.6
Shackleton, C.H.7
-
93
-
-
55449127985
-
-
World Directory, France: Strasbourg
-
World Directory. 2006. Mennonite World Conference. France: Strasbourg.
-
(2006)
Mennonite World Conference
-
-
-
94
-
-
0019834605
-
Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia
-
Ying KL, Decoteau WE. 1981. Cytogenetic anomalies in a patient with ataxia, immune deficiency, and high alpha-fetoprotein in the absence of telangiectasia. Cancer Genet Cytogenet 4:311-317.
-
(1981)
Cancer Genet Cytogenet
, vol.4
, pp. 311-317
-
-
Ying, K.L.1
Decoteau, W.E.2
-
95
-
-
4043076289
-
Founder mutations among the Dutch
-
Zeegers MP, van Poppel F, Vlietinck R, Spruijt L, Ostrer H. 2004. Founder mutations among the Dutch. Eur J Hum Genet 12:591-600.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 591-600
-
-
Zeegers, M.P.1
van Poppel, F.2
Vlietinck, R.3
Spruijt, L.4
Ostrer, H.5
-
96
-
-
0029920257
-
Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q
-
Zelinski T, McKeown I, McAlpine PJ, Philipps S, Coghlan G. 1996. Assignment of the gene(s) governing Froese and Swann blood group polymorphism to chromosome 17q. Transfusion 36:419-420.
-
(1996)
Transfusion
, vol.36
, pp. 419-420
-
-
Zelinski, T.1
McKeown, I.2
McAlpine, P.J.3
Philipps, S.4
Coghlan, G.5
-
97
-
-
0032718003
-
CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia
-
Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. 1999. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8:2311-2316.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2311-2316
-
-
Zhou, G.1
Chen, Y.2
Zhou, L.3
Thirunavukkarasu, K.4
Hecht, J.5
Chitayat, D.6
Gelb, B.D.7
Pirinen, S.8
Berry, S.A.9
Greenberg, C.R.10
Karsenty, G.11
Lee, B.12
|