-
1
-
-
0023471357
-
Deletion of the DXS165 locus in patients with classical choroideremia
-
Cremers F, Brunsmann F, van de Pol T, Pawlowitzhi I, Paulsen K, Wieringa B, Ropers H (1987): Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet 32:421-423.
-
(1987)
Clin Genet
, vol.32
, pp. 421-423
-
-
Cremers, F.1
Brunsmann, F.2
Van De Pol, T.3
Pawlowitzhi, I.4
Paulsen, K.5
Wieringa, B.6
Ropers, H.7
-
2
-
-
0017228081
-
A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities
-
Keller MA, Jones KL, Nyhan WL, Francke U, Dixson B (1976): A new syndrome of mental deficiency with craniofacial, limb, and anal abnormalities. J Pediatr 88:589-591.
-
(1976)
J Pediatr
, vol.88
, pp. 589-591
-
-
Keller, M.A.1
Jones, K.L.2
Nyhan, W.L.3
Francke, U.4
Dixson, B.5
-
3
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM (1984): Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
4
-
-
0029123556
-
Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM
-
May M, Colleaux L, Murgia A, Aylsworth A, Nussbaum R, Fontes M, Schwartz C (1995): Molecular analysis of four males with mental retardation and deletions of Xq21 places the putative MR region in Xq21.1 between DXS233 and CHM. Hum Mol Genet 4:1465-1466.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1465-1466
-
-
May, M.1
Colleaux, L.2
Murgia, A.3
Aylsworth, A.4
Nussbaum, R.5
Fontes, M.6
Schwartz, C.7
-
6
-
-
0020432965
-
Congenital deafness and hypogonadism: A new X-linked recessive disorder
-
Myhre S, Ruvalcaba R, Kelley V (1982): Congenital deafness and hypogonadism: A new X-linked recessive disorder. Clin Genet 22:299-307.
-
(1982)
Clin Genet
, vol.22
, pp. 299-307
-
-
Myhre, S.1
Ruvalcaba, R.2
Kelley, V.3
-
7
-
-
0016364728
-
Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation
-
Opitz JM, Kaveggia EG (1974): Studies of malformation syndromes of man XXXIII: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation. Z Kinderheilk 117:1-18.
-
(1974)
Z Kinderheilk
, vol.117
, pp. 1-18
-
-
Opitz, J.M.1
Kaveggia, E.G.2
-
9
-
-
0021064786
-
Linkage analysis and family classification under heterogeneity
-
Ott J (1983): Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320.
-
(1983)
Ann Hum Genet
, vol.47
, pp. 311-320
-
-
Ott, J.1
-
10
-
-
0028294654
-
A clinical follow-up of British patients with FG syndrome
-
Romano C, Baraitser M, Thompson E (1994): A clinical follow-up of British patients with FG syndrome. Clin Dysmorphol 3:104-114.
-
(1994)
Clin Dysmorphol
, vol.3
, pp. 104-114
-
-
Romano, C.1
Baraitser, M.2
Thompson, E.3
-
11
-
-
0021792085
-
The FG syndrome: 7 new cases
-
Thompson E, Baraitser M, Lindenbaum RH, Zaid ZH, Kroll JS (1985): The FG syndrome: 7 new cases. Clin Genet 27:582-594.
-
(1985)
Clin Genet
, vol.27
, pp. 582-594
-
-
Thompson, E.1
Baraitser, M.2
Lindenbaum, R.H.3
Zaid, Z.H.4
Kroll, J.S.5
-
13
-
-
0024328086
-
X linked mental retardation: A family with a separate syndrome?
-
Thompson E, Gordon A, Baraitser M (1989): X linked mental retardation: A family with a separate syndrome? J Med Genet 26:373-378.
-
(1989)
J Med Genet
, vol.26
, pp. 373-378
-
-
Thompson, E.1
Gordon, A.2
Baraitser, M.3
-
14
-
-
0028237921
-
Cloning and characterization of the human choroideremia gene
-
Van Bokhoven H, van den Hurk J, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers H, Cremers F (1994): Cloning and characterization of the human choroideremia gene. Hum Mol Genet 3:1041-1046.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1041-1046
-
-
Van Bokhoven, H.1
Van Den Hurk, J.2
Bogerd, L.3
Philippe, C.4
Gilgenkrantz, S.5
De Jong, P.6
Ropers, H.7
Cremers, F.8
-
15
-
-
0029111481
-
Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation
-
Van der Maarel S, Scholten I, Maat-Kievit J, Huber I, de Kok Y, de Wijs I, van de Pol T, van Bokhoven H, den Dunnen J, van Ommen G, Philippe C, Monaco A, Smeets H, Ropers H, Cremers F (1995): Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation. Eur J Hum Genet 3:207-218.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 207-218
-
-
Van Der Maarel, S.1
Scholten, I.2
Maat-Kievit, J.3
Huber, I.4
De Kok, Y.5
De Wijs, I.6
Van De Pol, T.7
Van Bokhoven, H.8
Den Dunnen, J.9
Van Ommen, G.10
Philippe, C.11
Monaco, A.12
Smeets, H.13
Ropers, H.14
Cremers, F.15
-
16
-
-
0024120449
-
X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34
-
Wallis C, Ballo R, Wallis G, Beighton P, Goldblatt J (1988): X-linked mixed deafness with stapes fixation in a Mauritian kindred: Linkage to Xq probe pDP34. Genomics 3:299-301.
-
(1988)
Genomics
, vol.3
, pp. 299-301
-
-
Wallis, C.1
Ballo, R.2
Wallis, G.3
Beighton, P.4
Goldblatt, J.5
-
17
-
-
0026786496
-
Nonspecific X linked mental retardation with aphasia exhibiting linkage to chromosomal region Xp11
-
Wilson GN, Richards CS, Katz K, Brookshire GS (1992): Nonspecific X linked mental retardation with aphasia exhibiting linkage to chromosomal region Xp11. J Med Genet 29:629-634.
-
(1992)
J Med Genet
, vol.29
, pp. 629-634
-
-
Wilson, G.N.1
Richards, C.S.2
Katz, K.3
Brookshire, G.S.4
|