-
1
-
-
0014572497
-
Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation
-
Joubert M, Eisenring J-J, Robb JP, Andermann F: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-825.
-
(1969)
Neurology
, vol.19
, pp. 813-825
-
-
Joubert, M.1
Eisenring, J.-J.2
Robb, J.P.3
Andermann, F.4
-
2
-
-
0017577011
-
Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellar vermis
-
Boltshauser E, Isler W: Joubert syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellar vermis. Neuropadiatrie 1977;8:57-66.
-
(1977)
Neuropadiatrie
, vol.8
, pp. 57-66
-
-
Boltshauser, E.1
Isler, W.2
-
4
-
-
0031438402
-
"Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation
-
Maria BL, Hoang KBN, Tusa RJ, et al: "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-430.
-
(1997)
J Child Neurol
, vol.12
, pp. 423-430
-
-
Maria, B.L.1
Hoang, K.B.N.2
Tusa, R.J.3
-
6
-
-
51249193206
-
Uber Retinitis pigmentosa and Angeborene amaurose
-
Leber T: Uber Retinitis pigmentosa and Angeborene amaurose. Albrecht von Graefes Arch Klin Ophthalmol 1869;15:1-25.
-
(1869)
Albrecht von Graefes Arch Klin Ophthalmol
, vol.15
, pp. 1-25
-
-
Leber, T.1
-
8
-
-
0017802250
-
Leber's congenital amaurosis: A retrospective study of 33 cases and a histopathological study of one case
-
Noble KG, Carr RE: Leber's congenital amaurosis: A retrospective study of 33 cases and a histopathological study of one case. Arch Ophthalmol 1978;96:818-821.
-
(1978)
Arch Ophthalmol
, vol.96
, pp. 818-821
-
-
Noble, K.G.1
Carr, R.E.2
-
9
-
-
0014621358
-
Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain
-
Dekaban AS: Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol 1969;68:1029-1037.
-
(1969)
Am J Ophthalmol
, vol.68
, pp. 1029-1037
-
-
Dekaban, A.S.1
-
10
-
-
85008284606
-
A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapeto-retinal dysplasia with coloboma and unilateral ptosis
-
Arima M, Ono K, Hisada K, Handa T: A familial syndrome of maldevelopment of the brain, polycystic kidneys, congenital tapeto-retinal dysplasia with coloboma and unilateral ptosis. No To Hattatsu 1971;3:330-331.
-
(1971)
No to Hattatsu
, vol.3
, pp. 330-331
-
-
Arima, M.1
Ono, K.2
Hisada, K.3
Handa, T.4
-
11
-
-
0023010763
-
Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): A distinct clinicopathological entity
-
Matsuzaka T, Sakuragawa N, Nakayama H, et al: Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): A distinct clinicopathological entity. J Child Neurol 1986;1:338-346.
-
(1986)
J Child Neurol
, vol.1
, pp. 338-346
-
-
Matsuzaka, T.1
Sakuragawa, N.2
Nakayama, H.3
-
12
-
-
0000784877
-
Juvenile familial nephropathy with tapetoretinal degeneration
-
Senior B, Friedmann AI, Braudi JL: Juvenile familial nephropathy with tapetoretinal degeneration. Am J Ophthalmol 1961;52:625-633.
-
(1961)
Am J Ophthalmol
, vol.52
, pp. 625-633
-
-
Senior, B.1
Friedmann, A.I.2
Braudi, J.L.3
-
14
-
-
0024593027
-
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis
-
Verloes A, Lambotte C: Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet 1989;32:227-232.
-
(1989)
Am J Med Genet
, vol.32
, pp. 227-232
-
-
Verloes, A.1
Lambotte, C.2
-
15
-
-
0028169982
-
Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity
-
Medhioub M, Cherif D, Benessy F, et al: Refined mapping of a gene (NPH1) causing familial juvenile nephronophthisis and evidence for genetic heterogeneity. Genomics 1994;22:296-301.
-
(1994)
Genomics
, vol.22
, pp. 296-301
-
-
Medhioub, M.1
Cherif, D.2
Benessy, F.3
-
16
-
-
9044227270
-
Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
-
Konrad M, Saunier S, Heidet L, et al: Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Molec Genet 1996;5:367-371.
-
(1996)
Hum Molec Genet
, vol.5
, pp. 367-371
-
-
Konrad, M.1
Saunier, S.2
Heidet, L.3
-
17
-
-
0000786720
-
Large deletions of the NPH1 region in Cogan syndrome (CS) associated with familial juvenile nephronophthisis (NPH)
-
Saunier S, Morin G, Calado J, et al: Large deletions of the NPH1 region in Cogan syndrome (CS) associated with familial juvenile nephronophthisis (NPH), abstract. Am J Hum Genet 1997;61:A346.
-
(1997)
Am J Hum Genet
, vol.61
-
-
Saunier, S.1
Morin, G.2
Calado, J.3
-
21
-
-
0020216124
-
Many tumors induced in the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome
-
Nuss R, Varmus HE: Many tumors induced in the mouse mammary tumor virus contain a provirus integrated in the same region of the host genome. Cell 1982;31:99-109.
-
(1982)
Cell
, vol.31
, pp. 99-109
-
-
Nuss, R.1
Varmus, H.E.2
-
22
-
-
0026772731
-
Wnt genes
-
Nuss R, Varmus HE: Wnt genes. Cell 1992;69:1073-1087.
-
(1992)
Cell
, vol.69
, pp. 1073-1087
-
-
Nuss, R.1
Varmus, H.E.2
-
23
-
-
0027370410
-
Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21
-
Clark CC, Cohen I, Eichstetter I, et al: Molecular cloning of the human proto-oncogene Wnt-5A and mapping of the gene (WNT5A) to chromosome 3p14-p21. Genomics 1993;18:249-260.
-
(1993)
Genomics
, vol.18
, pp. 249-260
-
-
Clark, C.C.1
Cohen, I.2
Eichstetter, I.3
-
24
-
-
0027201903
-
Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds
-
Parr BA, Shea MJ, Vassileva G, McMahon AP: Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development 1993;119:247-261.
-
(1993)
Development
, vol.119
, pp. 247-261
-
-
Parr, B.A.1
Shea, M.J.2
Vassileva, G.3
McMahon, A.P.4
-
25
-
-
0022157944
-
The nucleotide sequence of the human int-1 mammary oncogene; evolutionary conservation of coding and non-coding sequences
-
van Ooyen A, Kwee V, Nusse R: The nucleotide sequence of the human int-1 mammary oncogene; evolutionary conservation of coding and non-coding sequences. EMBO J 1985;4:2905-2909.
-
(1985)
EMBO J
, vol.4
, pp. 2905-2909
-
-
Van Ooyen, A.1
Kwee, V.2
Nusse, R.3
-
26
-
-
0024024316
-
Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophilia segment polarity mutant wingless
-
Wainwright BJ, Scambler PJ, Stanler P, et al: Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophilia segment polarity mutant wingless. EMBO J 1988;7:1743-1748.
-
(1988)
EMBO J
, vol.7
, pp. 1743-1748
-
-
Wainwright, B.J.1
Scambler, P.J.2
Stanler, P.3
-
27
-
-
0027291419
-
Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene
-
Roelink H, Wang J, Black DM, et al: Molecular cloning and chromosomal localization to 17q21 of the human WNT3 gene. Genomics 1993;17:790-792.
-
(1993)
Genomics
, vol.17
, pp. 790-792
-
-
Roelink, H.1
Wang, J.2
Black, D.M.3
-
28
-
-
0022364781
-
Expression during embryogenesis of a mouse gene with sequence homology to the Drosophilia engrailed gene
-
Joyner AL, Kornberg T, Coleman KG, et al: Expression during embryogenesis of a mouse gene with sequence homology to the Drosophilia engrailed gene. Cell 1995;43:29-37.
-
(1995)
Cell
, vol.43
, pp. 29-37
-
-
Joyner, A.L.1
Kornberg, T.2
Coleman, K.G.3
-
29
-
-
0023299591
-
En-1 and En-2, two mouse genes with sequence homology to the Drosophilia engrailed gene: Expression during embryogenesis
-
Joyner AL, Martin GR: En-1 and En-2, two mouse genes with sequence homology to the Drosophilia engrailed gene: Expression during embryogenesis. Genes Dev 1987;1:29-38.
-
(1987)
Genes Dev
, vol.1
, pp. 29-38
-
-
Joyner, A.L.1
Martin, G.R.2
-
30
-
-
0028310311
-
Multiple developmental defects in Engrailed-1 mutant mice: An early mid-hindbrain deletion and patterning defects in forelimbs and sternum
-
Wurst W, Auerbach AB, Joyner AL: Multiple developmental defects in Engrailed-1 mutant mice: An early mid-hindbrain deletion and patterning defects in forelimbs and sternum. Development 1994; 120:2065-2075.
-
(1994)
Development
, vol.120
, pp. 2065-2075
-
-
Wurst, W.1
Auerbach, A.B.2
Joyner, A.L.3
-
31
-
-
0027513567
-
Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21
-
Kohler A, Logan C, Joyner AL, Muenke M: Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21. Genomics 1993;15:233-235.
-
(1993)
Genomics
, vol.15
, pp. 233-235
-
-
Kohler, A.1
Logan, C.2
Joyner, A.L.3
Muenke, M.4
-
32
-
-
0024654558
-
Isolation and chromosomal localization of the human En-2 gene
-
Poole SJ, Law ML, Kao F-T, Lau Y-F: Isolation and chromosomal localization of the human En-2 gene. Genomics 1989;4:225-231.
-
(1989)
Genomics
, vol.4
, pp. 225-231
-
-
Poole, S.J.1
Law, M.L.2
Kao, F.-T.3
Lau, Y.-F.4
-
33
-
-
0029868429
-
Genotyping procedures in linkage mapping
-
Gyapay G, Ginot F, Nguyen S, et al: Genotyping procedures in linkage mapping. Methods 1996:9:91-97.
-
(1996)
Methods
, vol.9
, pp. 91-97
-
-
Gyapay, G.1
Ginot, F.2
Nguyen, S.3
-
34
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
-
Nystuen A, Benke PJ, Merren J, et al: A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 1996;5:525-531.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
-
35
-
-
0028856423
-
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family
-
Nadal N, Rolland MO, Tranchant C, et al: Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum Mol Genet 1995;4:1963-1966.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1963-1966
-
-
Nadal, N.1
Rolland, M.O.2
Tranchant, C.3
-
36
-
-
0029798669
-
Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10
-
Wayne S, Der Kaloustian VM, Schloss M, et al: Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet 1996;5:1689-1692.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1689-1692
-
-
Wayne, S.1
Der Kaloustian, V.M.2
Schloss, M.3
-
37
-
-
0031793351
-
Localisation of a Fanconi anaemia gene to chromosome 9p
-
Saar K, Schindler D, Wegner RD, et al: Localisation of a Fanconi anaemia gene to chromosome 9p. Eur J Hum Genet 1998;6: 501-508.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 501-508
-
-
Saar, K.1
Schindler, D.2
Wegner, R.D.3
-
38
-
-
0025635758
-
CHARGE and Joubert syndromes: Are they a single disorder
-
Menenzes M, Coker SB: CHARGE and Joubert syndromes: Are they a single disorder? Pediatr Neurol 1990;6:428-430.
-
(1990)
Pediatr Neurol
, vol.6
, pp. 428-430
-
-
Menenzes, M.1
Coker, S.B.2
-
39
-
-
0027522655
-
Oral-facial-digital syndromes, 1992
-
Toriello HV: Oral-facial-digital syndromes, 1992. Clin Dysmorphol 1993;2:95-105.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 95-105
-
-
Toriello, H.V.1
-
40
-
-
0018878503
-
Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic Gypsies
-
Varadi V, Szabo L, Papp Z: Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic Gypsies. J Med Genet 1980;17:119-122.
-
(1980)
J Med Genet
, vol.17
, pp. 119-122
-
-
Varadi, V.1
Szabo, L.2
Papp, Z.3
-
41
-
-
0025099046
-
Oral-facial-digital syndrome type VI (Varadi syndrome): Further clinical delineation
-
Muenke M, McDonald DM, Cronister A, et al: Oral-facial-digital syndrome type VI (Varadi syndrome): Further clinical delineation. Am J Med Genet 1990;35:360-369.
-
(1990)
Am J Med Genet
, vol.35
, pp. 360-369
-
-
Muenke, M.1
McDonald, D.M.2
Cronister, A.3
-
42
-
-
0008019485
-
A patient with overlapping phenotypic features of Joubert syndrome and oral-facial-digital syndrome type VI (Varadi syndrome)
-
Bouknight DP, Rogers RC: A patient with overlapping phenotypic features of Joubert syndrome and oral-facial-digital syndrome type VI (Varadi syndrome). Proc Greenwood Genet Cent 1994;13: 15-19.
-
(1994)
Proc Greenwood Genet Cent
, vol.13
, pp. 15-19
-
-
Bouknight, D.P.1
Rogers, R.C.2
-
43
-
-
0024428491
-
Central nervous system malformations in Mohr's syndrome
-
Reardon W, Harbord MG, Hall-Craggs MA, et al: Central nervous system malformations in Mohr's syndrome. J Med Genet 1989;26: 659-663.
-
(1989)
J Med Genet
, vol.26
, pp. 659-663
-
-
Reardon, W.1
Harbord, M.G.2
Hall-Craggs, M.A.3
-
44
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J: Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
45
-
-
0003408936
-
-
Baltimore, Johns Hopkins University Press
-
Ott J: Analysis of Human Genetic Linkage. Baltimore, Johns Hopkins University Press, 1991, p 111.
-
(1991)
Analysis of Human Genetic Linkage
, pp. 111
-
-
Ott, J.1
-
47
-
-
0028231090
-
The 1993-94 Genethon human genetic linkage map
-
Gyapay G, Morissette J, Vignal A, et al: The 1993-94 Genethon human genetic linkage map. Nat Genet 1994;7:246-339.
-
(1994)
Nat Genet
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morissette, J.2
Vignal, A.3
-
48
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Faure S, Fizames C, et al: A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 1996; 380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
-
49
-
-
0025369709
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
-
Viskochil D, Buchberg A, Xu G, et al: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990;62:187-192.
-
(1990)
Cell
, vol.62
, pp. 187-192
-
-
Viskochil, D.1
Buchberg, A.2
Xu, G.3
-
50
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Bertelson CJ, et al: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Bertelson, C.J.3
-
51
-
-
10544233785
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
-
Semina EV, Reiter R, Leysens NJ, et al: Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-399.
-
(1996)
Nat Genet
, vol.14
, pp. 392-399
-
-
Semina, E.V.1
Reiter, R.2
Leysens, N.J.3
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