-
1
-
-
0033168957
-
Monogenic traits are not simple: Lessons from phenylketonuria
-
Scriver, C. R. & Waters, P. J. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet. 15, 267-272(1999).
-
(1999)
Trends Genet.
, vol.15
, pp. 267-272
-
-
Scriver, C.R.1
Waters, P.J.2
-
2
-
-
0033911995
-
Phenotypes of patients with 'simple' Mendelian disorders are complex traits: Thresholds, modifiers, and systems dynamics
-
Dipple, K. M. & McCabe, E. R. B. Phenotypes of patients with 'simple' Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am. J. Hum. Genet. 66, 1729-1735 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1729-1735
-
-
Dipple, K.M.1
McCabe, E.R.B.2
-
3
-
-
0033799531
-
Modifier genes convert 'simple' Mendelian disorders to complex traits
-
Dipple, K. M. & McCabe, E. R. B. Modifier genes convert 'simple' Mendelian disorders to complex traits. Mol. Genet. Metab. 71, 43-50 (2000).
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 43-50
-
-
Dipple, K.M.1
McCabe, E.R.B.2
-
4
-
-
0030078281
-
Is there a paradigm shift in genetics? Lessons from the study of human diseases
-
Weiss, K. M. Is there a paradigm shift in genetics? Lessons from the study of human diseases. Mol. Pnylogenet. Evol. 5, 259-265 (1996).
-
(1996)
Mol. Pnylogenet. Evol.
, vol.5
, pp. 259-265
-
-
Weiss, K.M.1
-
5
-
-
0001577381
-
Phenylpyruvic oligophrenia def ciency of phenylalanine-oxidizing system
-
Jervis, G. A. Phenylpyruvic oligophrenia def ciency of phenylalanine-oxidizing system. Proc. Soc. Exp. Biol. Med. 82, 514-515 (1953).
-
(1953)
Proc. Soc. Exp. Biol. Med.
, vol.82
, pp. 514-515
-
-
Jervis, G.A.1
-
6
-
-
75449123150
-
A simple phenylaanine method for detecting phenylketonuria in large populations of newborn infants
-
Guthrie, R. & Susi, A. A simple phenylaanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32, 335-343 (1963).
-
(1963)
Pediatrics
, vol.32
, pp. 335-343
-
-
Guthrie, R.1
Susi, A.2
-
7
-
-
0029809090
-
The introduction of newborn screening for phenylketonuria: A personal history
-
Guthrie, R. The introduction of newborn screening for phenylketonuria: a personal history. Eur. J. Pediat. 155, 4-5 (1996).
-
(1996)
Eur. J. Pediat.
, vol.155
, pp. 4-5
-
-
Guthrie, R.1
-
8
-
-
0028954664
-
Whatever happened to PKU?
-
Scriver, C. R. Whatever happened to PKU? Clin. Biochem. 28, 137-144 (1995).
-
(1995)
Clin. Biochem.
, vol.28
, pp. 137-144
-
-
Scriver, C.R.1
-
9
-
-
0021072277
-
Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria
-
Woo, S. L. C, Lidsky, A. S. Guttler, F., Chandra, D. & Robson, K. J.-I. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Nature 306, 151-155 (1983).
-
(1983)
Nature
, vol.306
, pp. 151-155
-
-
Woo, S.L.C.1
Lidsky, A.S.2
Guttler, F.3
Chandra, D.4
Robson, K.J.-I.5
-
10
-
-
0002756708
-
Tetrahydrobiopterin deficiency: From phenotype to genotype
-
Blau, N., Thony, B., Haizmann, C. W. & Dhondt, J.-L Tetrahydrobiopterin deficiency: from phenotype to genotype. Pteridines 4, 1-10 (1993).
-
(1993)
Pteridines
, vol.4
, pp. 1-10
-
-
Blau, N.1
Thony, B.2
Haizmann, C.W.3
Dhondt, J.-L.4
-
11
-
-
0032745696
-
Molecular correlations in phenylketonuria: Mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population
-
Enns, G. M. et al. Molecular correlations in phenylketonuria: mutation patterns and corresponding biochemical and clinical phenotypes in a heterogeneous California population. Pedriatr. Res. 46, 594-602 (1999).
-
(1999)
Pedriatr. Res.
, vol.46
, pp. 594-602
-
-
Enns, G.M.1
-
12
-
-
0022350960
-
Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker
-
Tsui, L. C. et al. Cystic fibrosis locus defined by a genetically linked polymorphic DNA marker. Science 230, 1054-1057 (1985).
-
(1985)
Science
, vol.230
, pp. 1054-1057
-
-
Tsui, L.C.1
-
13
-
-
0024424270
-
Identification of the cystic fibrosis gene: Cloning and characterization of complementary DNA
-
Riordan, J. R. et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245, 1066-1073 (1989).
-
(1989)
Science
, vol.245
, pp. 1066-1073
-
-
Riordan, J.R.1
-
14
-
-
0035737072
-
Phenotype of of CF and the effects of possible modifier genes
-
Acton, J. D. & Wilmott, R. W. Phenotype of of CF and the effects of possible modifier genes. Pediatr. Respir. Rev. 2, 332-339 (2001).
-
(2001)
Pediatr. Respir. Rev.
, vol.2
, pp. 332-339
-
-
Acton, J.D.1
Wilmott, R.W.2
-
15
-
-
0035721749
-
Modifier genes and variation in cystic fibrosis
-
Drumm, M. L. Modifier genes and variation in cystic fibrosis Resp. Res, 2, 126-128 (2001).
-
(2001)
Resp. Res.
, vol.2
, pp. 126-128
-
-
Drumm, M.L.1
-
16
-
-
0034089406
-
Genotype-phenotype relationships in cystic fibrosis
-
Mickle, J. E. & Cutting, G. R. Genotype-phenotype relationships in cystic fibrosis, Med. Clin. N. Am. 84, 597-607(2000)
-
(2000)
Med. Clin. N. Am.
, vol.84
, pp. 597-607
-
-
Mickle, J.E.1
Cutting, G.R.2
-
17
-
-
0035287508
-
Modifier genes in mice and humans
-
Nadeau, J. H. Modifier genes in mice and humans Nature Rev. Genet. 2, 165-174 (2001).
-
(2001)
Nature Rev. Genet.
, vol.2
, pp. 165-174
-
-
Nadeau, J.H.1
-
18
-
-
0034109607
-
Genotype and phenotype in cystic fibrosis
-
Zielenski, J. Genotype and phenotype in cystic fibrosis. Respiration 67, 117-133 (2000).
-
(2000)
Respiration
, vol.67
, pp. 117-133
-
-
Zielenski, J.1
-
19
-
-
0033028607
-
Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13
-
Zielenski, J. et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nature Genet, 22, 128-129 (1999).
-
(1999)
Nature Genet
, vol.22
, pp. 128-129
-
-
Zielenski, J.1
-
20
-
-
13344282728
-
Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor
-
Rozmahel, R. et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nature Genet. 12, 280-287 (1996).
-
(1996)
Nature Genet.
, vol.12
, pp. 280-287
-
-
Rozmahel, R.1
-
21
-
-
0034102868
-
TGF-β(1) genotype and accelerated decline in lung function of patients with cystic fibrosis
-
Arkwright, P D. et al. TGF-β(1) genotype and accelerated decline in lung function of patients with cystic fibrosis. Thorax 55, 459-462 (2000).
-
(2000)
Thorax
, vol.55
, pp. 459-462
-
-
Arkwright, P.D.1
-
22
-
-
0031678410
-
Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis
-
Hull, J. & Thomson, A. H. Contribution of genetic factors other than CFTR to disease severity in cystic fibrosis. Thorax 53, 1018-1021 (1998).
-
(1998)
Thorax
, vol.53
, pp. 1018-1021
-
-
Hull, J.1
Thomson, A.H.2
-
23
-
-
0032935226
-
HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype
-
Aron, Y. et al. HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype. Am. J. Respir. Crit. Care Med. 159, 1464-1468 (1999).
-
(1999)
Am. J. Respir. Crit. Care Med.
, vol.159
, pp. 1464-1468
-
-
Aron, Y.1
-
24
-
-
0032695668
-
Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis
-
Garred, P. et al. Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis. J. Clin. Invest. 104, 431-437 (1999).
-
(1999)
J. Clin. Invest.
, vol.104
, pp. 431-437
-
-
Garred, P.1
-
25
-
-
0034523682
-
Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene
-
Grasemann, H. et al. Airway nitric oxide levels in cystic fibrosis patients are related to a polymorphism in the neuronal nitric oxide synthase gene. Am. J. Respir Crit. Care Med. 162, 2172-2176 (2000).
-
(2000)
Am. J. Respir Crit. Care Med.
, vol.162
, pp. 2172-2176
-
-
Grasemann, H.1
-
26
-
-
0032533204
-
Cystic fibrosis mice lacking Muc 1 have reduced amounts of intestinal mucus
-
Parmley, R. R. & Gendler, S. J. Cystic fibrosis mice lacking Muc1 have reduced amounts of intestinal mucus. J. Clin. Invest. 102, 1798-1806 (1998).
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 1798-1806
-
-
Parmley, R.R.1
Gendler, S.J.2
-
27
-
-
0034638436
-
Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population
-
Wang, X, et al. Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population. JAMA 284, 1814-1819 (2000).
-
(2000)
JAMA
, vol.284
, pp. 1814-1819
-
-
Wang, X.1
-
28
-
-
0037043663
-
Variant cystic fibrosis phenotypes in the absence of CFTR mutations
-
Groman, J. D., Meyer, M. E., Wilmott, R. W., Zeitlin, P. L. & Cutting, G. R. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N. Engl. J. Med. 347, 401-407 (2002).
-
(2002)
N. Engl. J. Med.
, vol.347
, pp. 401-407
-
-
Groman, J.D.1
Meyer, M.E.2
Wilmott, R.W.3
Zeitlin, P.L.4
Cutting, G.R.5
-
29
-
-
85018123504
-
Life's irreducible structure. Live mechanisms and information in DNA are boundary conditions with a sequence of boundaries above them
-
Pclanyi, M. Life's irreducible structure. Live mechanisms and information in DNA are boundary conditions with a sequence of boundaries above them. Science 160, 53-91 (1968).
-
(1968)
Science
, vol.160
, pp. 53-91
-
-
Pclanyi, M.1
-
30
-
-
0037177589
-
Maneuvering in the complex path from genotype to phenotype
-
Strohman, R. Maneuvering in the complex path from genotype to phenotype. Science 296, 701-703 (2002).
-
(2002)
Science
, vol.296
, pp. 701-703
-
-
Strohman, R.1
-
31
-
-
0037177552
-
Schizophrenia: Diverse approaches to a complex disease
-
An in-depth review of approaches to studying the pathogenesis of schizophrenia
-
Sawa, A. & Snyder, S. H. Schizophrenia: diverse approaches to a complex disease. Science 296, 692-695 (2002). An in-depth review of approaches to studying the pathogenesis of schizophrenia.
-
(2002)
Science
, vol.296
, pp. 692-695
-
-
Sawa, A.1
Snyder, S.H.2
-
32
-
-
0036163923
-
Familial amyotrophic lateral scloerosis
-
Hand, C. K. & Rouleau, G. A. Familial amyotrophic lateral scloerosis. Muscle Nerve 25, 135-159 (2002).
-
(2002)
Muscle Nerve
, vol.25
, pp. 135-159
-
-
Hand, C.K.1
Rouleau, G.A.2
-
33
-
-
0036235860
-
Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: Potential impact of CNTF as a candidate modifier gene
-
Giees, R. et al. Early onset of severe familial amyotrophic lateral sclerosis with a SOD-1 mutation: potential impact of CNTF as a candidate modifier gene. Am. J. Hum. Genet. 70, 1277-1286 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1277-1286
-
-
Giees, R.1
-
34
-
-
0028021552
-
A null mutation in the human CNTF gene is not causally related to neurological diseases
-
Takahashi, R. et al. A null mutation in the human CNTF gene is not causally related to neurological diseases. Nature Genet. 7, 79-84 (1994)
-
(1994)
Nature Genet.
, vol.7
, pp. 79-84
-
-
Takahashi, R.1
-
35
-
-
0026562404
-
A germ line mutation of the murine homolog of the APC gene causes multiple intestinal neoplasia
-
Su, L. K. et al. A germ line mutation of the murine homolog of the APC gene causes multiple intestinal neoplasia. Science 256, 668-670 (1992).
-
(1992)
Science
, vol.256
, pp. 668-670
-
-
Su, L.K.1
-
36
-
-
0026568524
-
The Min (multiple intestinal neoplasia) mutation: Its effect on gut epithelial cell differentiation and interaction with a modifer system
-
Moser, A. R., Dove, W. F., Roth, K. A. & Gordon, J. I. The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifer system. J. Cell Biol. 116, 1517-1526 (1992).
-
(1992)
J. Cell Biol.
, vol.116
, pp. 1517-1526
-
-
Moser, A.R.1
Dove, W.F.2
Roth, K.A.3
Gordon, J.I.4
-
37
-
-
0025015168
-
A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse
-
Moser, A. R., Pitot, H. C. & Dove, W. F. A dominant mutation that predisposes to multiple intestinal neoplasia in the mouse, Science 247, 322-324 (1990).
-
(1990)
Science
, vol.247
, pp. 322-324
-
-
Moser, A.R.1
Pitot, H.C.2
Dove, W.F.3
-
38
-
-
0027363063
-
Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse
-
Dietrich, W. F. et al. Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse Cell 75, 631-639 (1993).
-
(1993)
Cell
, vol.75
, pp. 631-639
-
-
Dietrich, W.F.1
-
39
-
-
0025627770
-
Fat (fat) and Tubby (tub): Two autosomal recessive mutations causing obesity syndromes in the mouse
-
Coleman, D. L. & Eicher, E. M. Fat (fat) and Tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse. J. Hered. 81, 424-427 (1990).
-
(1990)
J. Hered.
, vol.81
, pp. 424-427
-
-
Coleman, D.L.1
Eicher, E.M.2
-
40
-
-
0030006024
-
A candidate gene for the mouse mutation tubby
-
Noben-Trauth, K., Naggert, J. K., North, M. A. & Nishina, P. M. A candidate gene for the mouse mutation tubby. Nature 380, 534-538 (1996).
-
(1996)
Nature
, vol.380
, pp. 534-538
-
-
Noben-Trauth, K.1
Naggert, J.K.2
North, M.A.3
Nishina, P.M.4
-
41
-
-
15844372440
-
Identification and characterization of the mouse obesity gene tubby: A member of a novel gene family
-
Kleyn, P. W. et al. Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family. Cell 85, 281-290 (1996).
-
(1996)
Cell
, vol.85
, pp. 281-290
-
-
Kleyn, P.W.1
-
42
-
-
0032833982
-
Genetic modification of hearing in tubby mice: Evidence for the existence of a major gene (Moth 1) which protects tubby mice from hearing loss
-
Ikeda, A. et al. Genetic modification of hearing in tubby mice: evidence for the existence of a major gene (Moth 1) which protects tubby mice from hearing loss. Hum. Mol. Genet. 8, 1761-1767 (1999).
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1761-1767
-
-
Ikeda, A.1
-
43
-
-
0036544659
-
Microtubule-associated protein 1A is a modifier of tubby hearing (moth 1)
-
Ikeda, A. et al. Microtubule-associated protein 1A is a modifier of tubby hearing (moth 1). Nature Genet. 30, 401-405 (2002).
-
(2002)
Nature Genet.
, vol.30
, pp. 401-405
-
-
Ikeda, A.1
-
44
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and RCM1 loci
-
Kajiwara, K., Berson, E. L. & Dryja, T. P. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and RCM1 loci. Science 264, 1604-1608 (1994).
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
45
-
-
0037095736
-
Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
-
Rivolta, C., Sharon, D., DeAngelis, M. M. & Dryja, T. P Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum. Mol. Genet. 11, 1219-1227 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 1219-1227
-
-
Rivolta, C.1
Sharon, D.2
DeAngelis, M.M.3
Dryja, T.P.4
-
46
-
-
0033822064
-
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
-
Katsanis, N. et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genet. 26, 67-70 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 67-70
-
-
Katsanis, N.1
-
47
-
-
0033812186
-
Mutations in MKKS cause Bardet-Biedl syndrome
-
Slavotinek, A. M. et al. Mutations in MKKS cause Bardet-Biedl syndrome Nature Genet. 26, 15-16 (2000)
-
(2000)
Nature Genet.
, vol.26
, pp. 15-16
-
-
Slavotinek, A.M.1
-
48
-
-
0035091950
-
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS 6 and delineate the critical intervals of other loci
-
Bea es, P. L. et al. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. Am. J. Hum Genet. 68, 606-616 (2001).
-
(2001)
Am. J. Hum Genet.
, vol.68
, pp. 606-616
-
-
Beales, P.L.1
-
49
-
-
0035311942
-
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
-
Nishimura, D. Y. et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2), Hum. Mol. Genet. 10, 865-874 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 865-874
-
-
Nishimura, D.Y.1
-
50
-
-
0035929273
-
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
-
Katsanis, N. et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293, 2255-2259 (2001).
-
(2001)
Science
, vol.293
, pp. 2255-2259
-
-
Katsanis, N.1
-
51
-
-
0036076138
-
Regression-based quantitative-trait-Locus mapping in the 21st century
-
Feingold, E. Regression-based quantitative-trait-Locus mapping in the 21st century. Am. J. Hum. Genet. 71, 217-222 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 217-222
-
-
Feingold, E.1
-
52
-
-
0036260234
-
New strategies for identifying gene-gene interactions in hypertension
-
Moore, J. H. & Wilams, S. M. New strategies for identifying gene-gene interactions in hypertension. Ann. Med. 34, 88-95 (2002).
-
(2002)
Ann. Med.
, vol.34
, pp. 88-95
-
-
Moore, J.H.1
Wilams, S.M.2
-
53
-
-
26244454535
-
-
(eds Epstein, C., Erickson, R. & Wynshaw-Boris, A. (Oxford Univ. Press. San Francisco, in the press)
-
McCallion, A. S. & Chakravarti, A. in Inborn Errors of Development (eds Epstein, C., Erickson, R. & Wynshaw-Boris, A. (Oxford Univ. Press. San Francisco, in the press).
-
Inborn Errors of Development
-
-
McCallion, A.S.1
Chakravarti, A.2
-
54
-
-
0028618372
-
A missense mutation of the endothel n-B receptor gene in multigenic Hirschsprung's disease
-
Puffenberger, E. G. et al. A missense mutation of the endothel n-B receptor gene in multigenic Hirschsprung's disease. Cell 79, 1257-1266 (1994).
-
(1994)
Cell
, vol.79
, pp. 1257-1266
-
-
Puffenberger, E.G.1
-
55
-
-
0033739538
-
Genetics of Hirschsprung disease
-
Parisi, M. A. & Kapur, R. P. Genetics of Hirschsprung disease. Curr Opin. Pediatr. 12, 610-617 (2000).
-
(2000)
Curr Opin. Pediatr.
, vol.12
, pp. 610-617
-
-
Parisi, M.A.1
Kapur, R.P.2
-
56
-
-
0034764984
-
Hirschsprung disease, associated syndromes, and genetics: A review
-
Amiel, M. & Lyonett, S. Hirschsprung disease, associated syndromes, and genetics: a review. J. Med. Genet. 38, 729-739 (2001).
-
(2001)
J. Med. Genet.
, vol.38
, pp. 729-739
-
-
Amiel, M.1
Lyonett, S.2
-
57
-
-
0027219581
-
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10
-
Angrist, M. et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nature Genet. 3, 351-356 (1993).
-
(1993)
Nature Genet.
, vol.3
, pp. 351-356
-
-
Angrist, M.1
-
58
-
-
0027185569
-
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
-
Lyonnet, S. et al. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nature Genet, 4, 346-350 (1993).
-
(1993)
Nature Genet
, vol.4
, pp. 346-350
-
-
Lyonnet, S.1
-
59
-
-
18544365991
-
Segregation at three loci explains familial and population risk in Hirschsprung disease
-
Bolk-Gabriel, S. B. et al. Segregation at three loci explains familial and population risk in Hirschsprung disease. Nature Genet. 31, 89-93 (2002).
-
(2002)
Nature Genet.
, vol.31
, pp. 89-93
-
-
Bolk-Gabriel, S.B.1
-
60
-
-
0034602646
-
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
-
Bolk, S. et al. A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus. Proc. Natl Acad. Sci. USA 97, 268-273 (2000).
-
(2000)
Proc. Natl Acad. Sci. USA
, vol.97
, pp. 268-273
-
-
Bolk, S.1
-
61
-
-
0033365396
-
Digenic junctional epidermolysis bullosa: Mutations in COL 17A1 and LAMB3 genes
-
Floeth, M. & Bruckner-Tuderman, L Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am. J. Hum. Genet. 65, 1530-1537 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1530-1537
-
-
Floeth, M.1
Bruckner-Tuderman, L.2
-
62
-
-
0032015551
-
Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome
-
Kestila, M. et al. Positionally cloned gene for a novel glomerular protein nephrin is mutated in congenital nephrotic syndrome, Mol. Cell 1, 575-582 (1998).
-
(1998)
Mol. Cell
, vol.1
, pp. 575-582
-
-
Kestila, M.1
-
63
-
-
0033855640
-
Congenital nephrotic syndrome (NPHS1): Features resulting from different mutations in Finnish patients
-
Patrakka, J. et al. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int. 58, 972-980 (2000).
-
(2000)
Kidney Int.
, vol.58
, pp. 972-980
-
-
Patrakka, J.1
-
64
-
-
0034034757
-
NPHS2, encoding the glomerular protein podoc n, is mutated in autosomal recessive steroid-resistant nephrotic syndrome
-
Boute, N. et al. NPHS2, encoding the glomerular protein podoc n, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nature Genet. 24, 349-354 (2000).
-
(2000)
Nature Genet.
, vol.24
, pp. 349-354
-
-
Boute, N.1
-
65
-
-
0035834659
-
Interaction with podocin facilitates nephrin signaling
-
Huber, T. B., Kottgen, M., Schilling, B., Walz, G. & Benzing, T. Interaction with podocin facilitates nephrin signaling. J. Biol. Chem. 276, 1543-1546 (2001).
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 1543-1546
-
-
Huber, T.B.1
Kottgen, M.2
Schilling, B.3
Walz, G.4
Benzing, T.5
-
66
-
-
0037084569
-
Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration
-
Koziell, A. et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum. Mol. Genet, 11, 379-388 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 379-388
-
-
Koziell, A.1
-
67
-
-
0034967274
-
Identification of the gene that, when mutated, causes the human obesity syndrome BBS 4
-
Mykytyn, K. et al. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. Nature Genet. 28, 188-191 (2001).
-
(2001)
Nature Genet.
, vol.28
, pp. 188-191
-
-
Mykytyn, K.1
-
68
-
-
0036305311
-
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance
-
Katsanis, N. et al. BBS4 s a m nor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am. J. Hum. Genet. 71, 22-29 (2002)
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 22-29
-
-
Katsanis, N.1
-
69
-
-
14444283397
-
Identification of a gene that causes primary open angle glaucoma
-
Stone, E. M. et al. Identification of a gene that causes primary open angle glaucoma. Science 275, 668-670 (1997).
-
(1997)
Science
, vol.275
, pp. 668-670
-
-
Stone, E.M.1
-
70
-
-
0030942553
-
Identification of three different truncating mutations in cytochrome P450B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC 3A locus on chromosome 2p21
-
Stolov, I., Akarsu, A. N. & Sarfarazl, M. Identification of three different truncating mutations in cytochrome P450B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum. Mol. Genet. 6, 641-647 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 641-647
-
-
Stolov, I.1
Akarsu, A.N.2
Sarfarazl, M.3
-
71
-
-
0344889215
-
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations
-
Fingert, J. H. et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum. Mol. Genet. 8, 899-905 (1999).
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 899-905
-
-
Fingert, J.H.1
-
72
-
-
0034639693
-
Multiple CYP 1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus
-
Bejani, B. A. et al. Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus. Hum. Mol. Genet. 12, 367-374 (2000).
-
(2000)
Hum. Mol. Genet.
, vol.12
, pp. 367-374
-
-
Bejani, B.A.1
-
73
-
-
17344362827
-
Mutations in CYP1B1, the gene for cytochrome P4501B 1, are the predominant cause of primary congenital glaucoma in Saudi Arabia
-
Bejjani, B. A. et al. Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am. J. Hum. Genet. 62, 325-333 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 325-333
-
-
Bejjani, B.A.1
-
74
-
-
0036157114
-
Digenic inheritance of early-onset glaucoma: CYP1B 1, a potential modifier gene
-
Vincent, A. L. et al. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am. J Hum. Genet. 70, 448-460 (2002).
-
(2002)
Am. J Hum. Genet.
, vol.70
, pp. 448-460
-
-
Vincent, A.L.1
-
75
-
-
0034234293
-
Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: Association of polymorphisms with functional differences in hydrogen hydroxylation activity
-
Hanna, I. H., Dawling, S., Roodi, N., Guengerich, F. P. & Parl, F. F. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in hydrogen hydroxylation activity. Cancer Res. 60, 3440-3444 (2000).
-
(2000)
Cancer Res.
, vol.60
, pp. 3440-3444
-
-
Hanna, I.H.1
Dawling, S.2
Roodi, N.3
Guengerich, F.P.4
Parl, F.F.5
-
76
-
-
0034743322
-
Specificity of 17b-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P450B1 variants substituted at residues 48, 119 and 432
-
Shimada, T., Watanabe, J., Inoue, K., Guengerich, F. P. & Gillam, E. M. Specificity of 17b-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P450B1 variants substituted at residues 48, 119 and 432. Xenobiotica 31, 163-176 (2001).
-
(2001)
Xenobiotica
, vol.31
, pp. 163-176
-
-
Shimada, T.1
Watanabe, J.2
Inoue, K.3
Guengerich, F.P.4
Gillam, E.M.5
-
77
-
-
0032867995
-
Catalytic properties of polymorphic human cytochrome P 450 1B1 variants
-
Shimada, T. et al. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis 20, 1607-1613 (1999).
-
(1999)
Carcinogenesis
, vol.20
, pp. 1607-1613
-
-
Shimada, T.1
-
78
-
-
0034039377
-
Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol
-
Li, D. N., Seidel, A., Pritchard, M. P., Wolf, C. R & Friedberg, T. Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics 10, 343-353 (2000).
-
(2000)
Pharmacogenetics
, vol.10
, pp. 343-353
-
-
Li, D.N.1
Seidel, A.2
Pritchard, M.P.3
Wolf, C.R.4
Friedberg, T.5
-
79
-
-
0029942496
-
Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: Hydrodynamic evidence for a tetrameric quaternary structure
-
Goldberg, A. F. X. & Molday, R. S. Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry 35, 6144-6149 (1996).
-
(1996)
Biochemistry
, vol.35
, pp. 6144-6149
-
-
Goldberg, A.F.X.1
Molday, R.S.2
-
80
-
-
0034106721
-
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis
-
Clark, G. et al. Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis Nature Genet. 25, 67-73 (2000).
-
(2000)
Nature Genet.
, vol.25
, pp. 67-73
-
-
Clark, G.1
-
81
-
-
0024571803
-
Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)
-
Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A. & Sutcliffe, J. G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338, 70-73 (1989).
-
(1989)
Nature
, vol.338
, pp. 70-73
-
-
Travis, G.H.1
Brennan, M.B.2
Danielson, P.E.3
Kozak, C.A.4
Sutcliffe, J.G.5
-
82
-
-
0035933756
-
Molecular characterization of the peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa
-
Loewen, C. J., Moritz, O. L. & Molday, R. S. Molecular characterization of the peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J. Biol. Chem. 276, 22388-22396 (2001).
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 22388-22396
-
-
Loewen, C.J.1
Moritz, O.L.2
Molday, R.S.3
-
83
-
-
0030474177
-
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1
-
Goldberg, A. F. & Molday, R. S. Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc. Natl Acad. Sci. USA 93, 13726-13730 (1996).
-
(1996)
Proc. Natl Acad. Sci. USA
, vol.93
, pp. 13726-13730
-
-
Goldberg, A.F.1
Molday, R.S.2
-
84
-
-
0035210324
-
Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin
-
Schwartz, K. et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108, 1621-1629 (2001).
-
(2001)
J. Clin. Invest.
, vol.108
, pp. 1621-1629
-
-
Schwartz, K.1
-
85
-
-
0030292383
-
Germline mutations in glial cell-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
-
Angrist, M., Bolk, S., Halushka, M., Lapchak, P. & Chakravarti, A. Germline mutations in glial cell-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genet. 14, 341-344 (1996).
-
(1996)
Nature Genet.
, vol.14
, pp. 341-344
-
-
Angrist, M.1
Bolk, S.2
Halushka, M.3
Lapchak, P.4
Chakravarti, A.5
-
86
-
-
15844422453
-
GDNF signaling through the Ret receptor tyrosine kinase
-
Durbec, P. et al. GDNF signaling through the Ret receptor tyrosine kinase. Nature 381, 789-793 (1996).
-
(1996)
Nature
, vol.381
, pp. 789-793
-
-
Durbec, P.1
-
87
-
-
15844418441
-
Characterization of a multicomponent receptor for GDNF
-
Treanor, J. J. et al. Characterization of a multicomponent receptor for GDNF. Nature 382, 80-83 (1996).
-
(1996)
Nature
, vol.382
, pp. 80-83
-
-
Treanor, J.J.1
-
88
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch1
-
Li, L. et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nature Genet. 16, 243-251 (1997).
-
(1997)
Nature Genet.
, vol.16
, pp. 243-251
-
-
Li, L.1
-
89
-
-
0030914459
-
Mutations in the human Jagged 1 gene are responsible for Alagille syndrome
-
Oda, T. et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genet. 16, 235-242 (1997).
-
(1997)
Nature Genet.
, vol.16
, pp. 235-242
-
-
Oda, T.1
-
90
-
-
0036339631
-
A mouse model for Alagille syndrome: Notch 2 as a genetic modifier of Jag1 haploinsufficiency
-
McCright, B., Lozier, J. & Grid ey, T. A mouse model for Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 129, 1075-1082 (2002).
-
(2002)
Development
, vol.129
, pp. 1075-1082
-
-
McCright, B.1
Lozier, J.2
Gridley, T.3
-
91
-
-
0035004372
-
Rules of nonallelic complementation at the synapse in Caenorhabditis elegans
-
Yook, K. J., Proulx, S. R. & Jorgensen, E. M. Rules of nonallelic complementation at the synapse in Caenorhabditis elegans. Genetics 158, 209-220 (2001).
-
(2001)
Genetics
, vol.158
, pp. 209-220
-
-
Yook, K.J.1
Proulx, S.R.2
Jorgensen, E.M.3
-
92
-
-
0024422560
-
Interacting genes identify interacting proteins involved in microtubule function in Drosophila
-
Ful er, M. T. et al. Interacting genes identify interacting proteins involved in microtubule function in Drosophila. Cell Motil. Cytoskeleton 14,128-135 (1989).
-
(1989)
Cell Motil. Cytoskeleton
, vol.14
, pp. 128-135
-
-
Fuller, M.T.1
-
93
-
-
0024024370
-
Unlinked noncomplementation: Isolation of new conditional-lethal mutations in each of the tubulin genes of Saccharomyces cerevisiae
-
Stearns, T. & Botstein, D. Unlinked noncomplementation: isolation of new conditional-lethal mutations in each of the tubulin genes of Saccharomyces cerevisiae Genetics 119, 249-260 (1988).
-
(1988)
Genetics
, vol.119
, pp. 249-260
-
-
Stearns, T.1
Botstein, D.2
-
94
-
-
0036501072
-
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation la (CDG-la) caused by phosphomannomutase deficiency
-
Westphal, I. V. at al A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation la (CDG-la) caused by phosphomannomutase deficiency. Hum. Mol. Genet. 11, 599-604 (2002).
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 599-604
-
-
Westphal, I.V.1
-
95
-
-
0037050026
-
Functional organization of the yeast proteome by systematic analysis of protein complexes
-
Gavin, A. C. et al. Functional organization of the yeast proteome by systematic analysis of protein complexes. Nature 415, 41-47 (2002).
-
(2002)
Nature
, vol.415
, pp. 41-47
-
-
Gavin, A.C.1
-
96
-
-
0037050004
-
Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry
-
Ho, Y. et al. Systematic identification of protein complexes in Saccharomyces cerevisiae by mass spectrometry. Nature 415, 180-183 (2002).
-
(2002)
Nature
, vol.415
, pp. 180-183
-
-
Ho, Y.1
-
97
-
-
0036089031
-
Why mutation analysis does not always predict clinical consequences: Explanations in the era of genomics
-
Scriver, C. R. Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics. J. Pediatr. 140, 502-506 (2002).
-
(2002)
J. Pediatr.
, vol.140
, pp. 502-506
-
-
Scriver, C.R.1
-
98
-
-
0012119330
-
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
-
Allikmets, R. et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 277, 1805-1807 (1997).
-
(1997)
Science
, vol.277
, pp. 1805-1807
-
-
Allikmets, R.1
-
99
-
-
0031037951
-
A photoreceptor ce l-specific ATP-binding transporter gene (ABCP) is mutated in recessive Stargardt macular dystrophy
-
Allikmets, R. et al. A photoreceptor ce l-specific ATP-binding transporter gene (ABCP) is mutated in recessive Stargardt macular dystrophy. Nature Genet. 15, 236-246 (1997).
-
(1997)
Nature Genet.
, vol.15
, pp. 236-246
-
-
Allikmets, R.1
-
100
-
-
0033775698
-
Biochemical defects in ABCR protein variants associated with human retinopathies
-
Sun, H., Smallwood, P. M. & Nathans, J. Biochemical defects in ABCR protein variants associated with human retinopathies. Nature Genet. 26, 242-246 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 242-246
-
-
Sun, H.1
Smallwood, P.M.2
Nathans, J.3
-
101
-
-
0035510172
-
Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration
-
Shroyer, N. F., Lewis, R A., Yatsenko, A. N., Wensel, T. G. & Lupski, J. R. Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration. Hum. Mol. Genet. 10, 2671-2678 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2671-2678
-
-
Shroyer, N.F.1
Lewis, R.A.2
Yatsenko, A.N.3
Wensel, T.G.4
Lupski, J.R.5
-
102
-
-
0037165262
-
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment
-
del Castillo, I. et al. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. N. Engl. J. Med. 346, 243-249 (2002).
-
(2002)
N. Engl. J. Med.
, vol.346
, pp. 243-249
-
-
Del Castillo, I.1
-
103
-
-
0033671717
-
Dominant modifier DFNM1 suppresses recessive deafness DFNB26
-
Riazuddin, S. et al. Dominant modifier DFNM1 suppresses recessive deafness DFNB26. Nature Genet. 26, 431-434 (2000).
-
(2000)
Nature Genet.
, vol.26
, pp. 431-434
-
-
Riazuddin, S.1
-
104
-
-
0033365218
-
Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance
-
Adato, A. et al. Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance. Am. J. Hum. Genet. 65, 261-265 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 261-265
-
-
Adato, A.1
-
105
-
-
0032231413
-
Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family
-
Balciuniene, J. et al. Evidence for digenic inheritance of nonsyndromic hereditary hearing loss in a Swedish family. Am. J. Hum. Genet. 63, 786-793 (1998).
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 786-793
-
-
Balciuniene, J.1
-
106
-
-
0030979154
-
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)
-
Morell, R. et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum. Mol. Genet. 6, 659-664 (1997).
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 659-664
-
-
Morell, R.1
-
107
-
-
0028905205
-
Mutations in the proteolytic enzyme Calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard, I. et al. Mutations in the proteolytic enzyme Calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 81, 27-40 (1995).
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
-
108
-
-
0035880227
-
Fibrinogen Milano XII: A dysfunctional variant containing 2 amino acid substitutions, α-R16C and γ-G165R
-
Bolliger-Stucki B., Lord, S. T. & Furan, M. Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, α-R16C and γ-G165R. Blood 98, 351-357 (2001).
-
(2001)
Blood
, vol.98
, pp. 351-357
-
-
Bolliger-Stucki, B.1
Lord, S.T.2
Furan, M.3
-
109
-
-
0027510375
-
Prospective analysis and classification of patients with cystinuria identified in a newborn screening program
-
Goodyer, P. R., Clow, C., Reade, T. & Girardin, C. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. J. Pediatr. 122, 568-572 (1993).
-
(1993)
J. Pediatr.
, vol.122
, pp. 568-572
-
-
Goodyer, P.R.1
Clow, C.2
Reade, T.3
Girardin, C.4
-
110
-
-
0033784271
-
Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
-
Kerst, B. et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy Neuromuscul. Disord. 10, 572-577 (2000).
-
(2000)
Neuromuscul. Disord.
, vol.10
, pp. 572-577
-
-
Kerst, B.1
-
111
-
-
0031595691
-
The APCl1307K allele and breast cancer risk
-
Redston, M et al. The APCl1307K allele and breast cancer risk. Nature Genet. 20, 13-14 (1998).
-
(1998)
Nature Genet.
, vol.20
, pp. 13-14
-
-
Redston, M.1
-
112
-
-
0031710558
-
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics
-
Schaf, J. M. et al. Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nature Genet. 20, 83-86 (1998).
-
(1998)
Nature Genet.
, vol.20
, pp. 83-86
-
-
Schaf, J.M.1
-
113
-
-
13344268996
-
Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus
-
Phelan, C. M. et al. Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12, 309-311 (1996).
-
(1996)
Nature Genet.
, vol.12
, pp. 309-311
-
-
Phelan, C.M.1
-
114
-
-
0033925280
-
A cholesterol-lowering gene maps to chromosome 13q
-
Knoblauch, H. et al. A cholesterol-lowering gene maps to chromosome 13q. Am. J. Hum. Genet. 66, 157-166 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 157-166
-
-
Knoblauch, H.1
-
115
-
-
0033754004
-
Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
-
Cazeneuve, C. et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am. J. Hum. Genet. 67, 1136-1143 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1136-1143
-
-
Cazeneuve, C.1
-
116
-
-
0033911449
-
Candidate locus for a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya, Y. et al. Candidate locus for a nuclear modifier gene for maternally inherited deafness. Am. J. Hum. Genet. 66, 1905-1910 (2000).
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1905-1910
-
-
Bykhovskaya, Y.1
-
117
-
-
0034837773
-
MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations
-
Box, N. F. et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am. J. Hum. Genet. 69, 765-773 (2001).
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 765-773
-
-
Box, N.F.1
-
118
-
-
0033365195
-
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.-2-11.-1
-
Serte, A. L., Sousa, A. V., Steman, S., Pavanelo, R. C. & Passos-Bueno, M. R. Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11. -2-11.-1, Am. J. Hum. Genet. 65, 433-440 (1999).
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 433-440
-
-
Serte, A.L.1
Sousa, A.V.2
Steman, S.3
Pavanelo, R.C.4
Passos-Bueno, M.R.5
-
119
-
-
0023257218
-
The effect of ABO blood group on the diagnosis of von Willebrand disease
-
Gill, J. C., Endres-Brooks, J., Bauer, P. J., Marks, W. J. J. & Montgomery, R. R. The effect of ABO blood group on the diagnosis of von Willebrand disease. Blood 69, 1691-1695 (1987).
-
(1987)
Blood
, vol.69
, pp. 1691-1695
-
-
Gill, J.C.1
Endres-Brooks, J.2
Bauer, P.J.3
Marks, W.J.J.4
Montgomery, R.R.5
-
120
-
-
0033534406
-
Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase
-
Mohlke, K. L. et al. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 96, 111-120 (1999).
-
(1999)
Cell
, vol.96
, pp. 111-120
-
-
Mohlke, K.L.1
-
121
-
-
0034744296
-
TGF-β1 promotes microglial amyloid-β clearance and reduces plaque burden in transgenic mice
-
Wyss-Coray, T. et al. TGF-β1 promotes microglial amyloid-β clearance and reduces plaque burden in transgenic mice. Nature Med. 7, 612-618 (2001).
-
(2001)
Nature Med.
, vol.7
, pp. 612-618
-
-
Wyss-Coray, T.1
-
122
-
-
0034602149
-
2 gene
-
2 gene. J Biol. Chem. 275, 34013-34016 (2000).
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 34013-34016
-
-
Takaku, K.1
-
123
-
-
0030606299
-
Δ716 knockout mice by inhibition of cyclcoxygenase 2 (COX-2)
-
Δ716 knockout mice by inhibition of cyclcoxygenase 2 (COX-2). Cell 87, 803-809 (1996).
-
(1996)
Cell
, vol.87
, pp. 803-809
-
-
Oshima, M.1
-
124
-
-
0033803952
-
Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
-
Vockley, J., Rinaldo, P., Bennett, M. J., Matern, D. & Vladutiu, G. D. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol. Genet, Metab. 71, 10-18 (2002).
-
(2002)
Mol. Genet. Metab.
, vol.71
, pp. 10-18
-
-
Vockley, J.1
Rinaldo, P.2
Bennett, M.J.3
Matern, D.4
Vladutiu, G.D.5
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