-
1
-
-
0027944925
-
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?
-
Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC: Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet 1994; 53: 141-148.
-
(1994)
Am J Med Genet
, vol.53
, pp. 141-148
-
-
Bird, L.M.1
Krous, H.F.2
Eichenfield, L.F.3
Swalwell, C.I.4
Jones, M.C.5
-
2
-
-
0020399261
-
Agenesis of the corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation
-
Ropers H-H, Zuffardi O, Bianchi E, Tiepolo L: Agenesis of the corpus callosum, ocular, and skeletal anomalies (X-linked dominant Aicardi's syndrome) in a girl with balanced X/3 translocation. Hum Genet 1982; 61: 364-368.
-
(1982)
Hum Genet
, vol.61
, pp. 364-368
-
-
Ropers, H.-H.1
Zuffardi, O.2
Bianchi, E.3
Tiepolo, L.4
-
3
-
-
0013038474
-
An XX male and two t(X;Y) females with linear skin defects and congenital microphthalmia: A new syndrome at Xp22.3
-
Al-Gazali LI, Mueller RF, Caine A et al: An XX male and two t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. J Med Genet 1988; 25: 638-039.
-
(1988)
J Med Genet
, vol.25
, pp. 638-1039
-
-
Al-Gazali, L.I.1
Mueller, R.F.2
Caine, A.3
-
4
-
-
0025012907
-
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies
-
Temple IK, Hurst JA, Hing S, Butler L, Baraitser M: De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 1990; 27: 56-58.
-
(1990)
J Med Genet
, vol.27
, pp. 56-58
-
-
Temple, I.K.1
Hurst, J.A.2
Hing, S.3
Butler, L.4
Baraitser, M.5
-
5
-
-
0025038625
-
Microphthalmia and chorioretinal lesion in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to Aicardi syndrome gene localization
-
Donnenfeld AE, Coyne MD, Beauregard LJ: Microphthalmia and chorioretinal lesion in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. Am J Med Genet 1990; 37: 182-186.
-
(1990)
Am J Med Genet
, vol.37
, pp. 182-186
-
-
Donnenfeld, A.E.1
Coyne, M.D.2
Beauregard, L.J.3
-
6
-
-
0026895136
-
Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
-
Ballabio A, Andria G: Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1992; 1: 221-227.
-
(1992)
Hum Mol Genet
, vol.1
, pp. 221-227
-
-
Ballabio, A.1
Andria, G.2
-
7
-
-
0013233929
-
Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes
-
Johns Hopkins University Press: Baltimore, MD
-
McKusick VA, Francomano C, Antonarakis SE: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes: Mendelian Inheritance in Man. Johns Hopkins University Press: Baltimore, MD, 1995.
-
(1995)
Mendelian Inheritance in Man
-
-
McKusick, V.A.1
Francomano, C.2
Antonarakis, S.E.3
-
8
-
-
0026764396
-
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?
-
Naritomi K, Izumikawa Y, Nagataki S et al: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet 1992; 43: 839-843.
-
(1992)
Am J Med Genet
, vol.43
, pp. 839-843
-
-
Naritomi, K.1
Izumikawa, Y.2
Nagataki, S.3
-
9
-
-
0027958509
-
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic and molecular characterization
-
Lindsay EA, Grillo A, Ferrero GB et al: Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization. Am J Med Genet 1994; 49: 229-234.
-
(1994)
Am J Med Genet
, vol.49
, pp. 229-234
-
-
Lindsay, E.A.1
Grillo, A.2
Ferrero, G.B.3
-
10
-
-
0027313285
-
The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): Cloning and characterization of the critical regions
-
Wapenaar MC, Bassi MT, Schaefer L et al: The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet 1993; 2: 947-952.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 947-952
-
-
Wapenaar, M.C.1
Bassi, M.T.2
Schaefer, L.3
-
11
-
-
0028240483
-
A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6Mb of overlapping cosmids in Xp22
-
Wapenaar MC, Schiaffino MV, Bassi MT et al: A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6Mb of overlapping cosmids in Xp22. Hum Mol Genet 1994; 3: 1155-1161.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1155-1161
-
-
Wapenaar, M.C.1
Schiaffino, M.V.2
Bassi, M.T.3
-
12
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5264 microsatellites
-
Dib C, Fauré 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
Fauré, S.2
Fizames, C.3
-
13
-
-
0028892091
-
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
-
Ferrero GB, Franco B, Roth EJ et al: An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 1995; 4: 1821-1827.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1821-1827
-
-
Ferrero, G.B.1
Franco, B.2
Roth, E.J.3
-
14
-
-
9044223283
-
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching
-
Banfi S, Borsani G, Rossi E et al: Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nat Genet 1996; 13: 167-174.
-
(1996)
Nat Genet
, vol.13
, pp. 167-174
-
-
Banfi, S.1
Borsani, G.2
Rossi, E.3
-
15
-
-
0026687309
-
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects
-
Lindor NM, Michels W, Hoppe DA, Driscoll DJ, Leavitt JA: Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects. Am J Med Genet 1992; 44: 61-65.
-
(1992)
Am J Med Genet
, vol.44
, pp. 61-65
-
-
Lindor, N.M.1
Michels, W.2
Hoppe, D.A.3
Driscoll, D.J.4
Leavitt, J.A.5
-
16
-
-
0028852091
-
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism
-
Schiaffino MV, Bassi MT, Galli L et al: Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet 1995; 4: 2319-2325.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2319-2325
-
-
Schiaffino, M.V.1
Bassi, M.T.2
Galli, L.3
-
17
-
-
0025157834
-
Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms
-
Weber JL: Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics 1990; 7: 524-530.
-
(1990)
Genomics
, vol.7
, pp. 524-530
-
-
Weber, J.L.1
-
18
-
-
0025980080
-
Linear skin defects and congenital microphthalmia: A new syndrome at Xp22.2
-
Allanson J, Richter S: Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2. J Med Genet 1991; 28: 143-144.
-
(1991)
J Med Genet
, vol.28
, pp. 143-144
-
-
Allanson, J.1
Richter, S.2
|