-
1
-
-
0017329174
-
A new syndrome of cleft plate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis
-
Abruzzo MA, Erickson RP. 1977. A new syndrome of cleft plate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. J Med Genet 14:76-80.
-
(1977)
J Med Genet
, vol.14
, pp. 76-80
-
-
Abruzzo, M.A.1
Erickson, R.P.2
-
2
-
-
0345195725
-
Gene localization and clinical redefinition of the Snyder-Robinson syndrome
-
Arena JF, Schwartz C, McClurkin C, Miller M, Stevenson R, Garza J, Nance M Lubs HA. 1992. Gene localization and clinical redefinition of the Snyder-Robinson syndrome. Am J Hum Genet 51:A181.
-
(1992)
Am J Hum Genet
, vol.51
-
-
Arena, J.F.1
Schwartz, C.2
McClurkin, C.3
Miller, M.4
Stevenson, R.5
Garza, J.6
Nance, M.7
Lubs, H.A.8
-
3
-
-
0027184118
-
A third patient with median cleft upper lip, mental retardation and pugulistic facies (W syndrome): Corroboration of a hitherto private syndrome
-
Bottani A, Schinzel A. 1993. A third patient with median cleft upper lip, mental retardation and pugulistic facies (W syndrome): corroboration of a hitherto private syndrome. Clin Dysmorphol 2:225-231.
-
(1993)
Clin Dysmorphol
, vol.2
, pp. 225-231
-
-
Bottani, A.1
Schinzel, A.2
-
4
-
-
0025834804
-
Robin sequence with facial and digital anomalies in two half-brothers by the same mother
-
Chitayat D, Meunier C, Hodgkinson KA, Azouz ME. 1991. Robin sequence with facial and digital anomalies in two half-brothers by the same mother. Am J Med Genet 40:167-172.
-
(1991)
Am J Med Genet
, vol.40
, pp. 167-172
-
-
Chitayat, D.1
Meunier, C.2
Hodgkinson, K.A.3
Azouz, M.E.4
-
5
-
-
0031054554
-
Androgen insensitivity with mental retardation: A contiguous gene syndrome
-
Davies HR, Hughes IA, Savage MO, Quigley CA, Trifiro M, Pinsky L, Brown TR, Patterson MN. 1997. Androgen insensitivity with mental retardation: a contiguous gene syndrome. J Med Genet 34:158-160.
-
(1997)
J Med Genet
, vol.34
, pp. 158-160
-
-
Davies, H.R.1
Hughes, I.A.2
Savage, M.O.3
Quigley, C.A.4
Trifiro, M.5
Pinsky, L.6
Brown, T.R.7
Patterson, M.N.8
-
6
-
-
0028895748
-
A 2D crossover-based map of the human X chromosome as a model for map integration
-
Fain PR, Kort EN, Chance PF, Nguyen K, Redd DF, Econs MJ, Barker DF. 1995. A 2D crossover-based map of the human X chromosome as a model for map integration. Nature Genetics 9:261-266.
-
(1995)
Nature Genetics
, vol.9
, pp. 261-266
-
-
Fain, P.R.1
Kort, E.N.2
Chance, P.F.3
Nguyen, K.4
Redd, D.F.5
Econs, M.J.6
Barker, D.F.7
-
7
-
-
0030064383
-
Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia (CPX) including the proximal X-Y homology breakpoint within Xq21.3
-
Forbes SA, Brennan L, Richardson M, Coffey A, Cole CG, Gregory SG, Bentley DR, Mumm S, Moore GE, Stanier P. 1996. Refined mapping and YAC contig construction of the X-linked cleft palate and ankyloglossia (CPX) including the proximal X-Y homology breakpoint within Xq21.3. Genomics 31:36-43.
-
(1996)
Genomics
, vol.31
, pp. 36-43
-
-
Forbes, S.A.1
Brennan, L.2
Richardson, M.3
Coffey, A.4
Cole, C.G.5
Gregory, S.G.6
Bentley, D.R.7
Mumm, S.8
Moore, G.E.9
Stanier, P.10
-
9
-
-
0028939603
-
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)
-
Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995): Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome). Cell 80:837-845.
-
(1995)
Cell
, vol.80
, pp. 837-845
-
-
Gibbons, R.J.1
Picketts, D.J.2
Villard, L.3
Higgs, D.R.4
-
10
-
-
0014735220
-
Robin's syndrome: A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect
-
Gorlin RJ, Cervenka J, Anderson RC, Sauk JJ, Bevis WD. 1970. Robin's syndrome: a probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect. Am J Dis Child 119:176-178.
-
(1970)
Am J Dis Child
, vol.119
, pp. 176-178
-
-
Gorlin, R.J.1
Cervenka, J.2
Anderson, R.C.3
Sauk, J.J.4
Bevis, W.D.5
-
11
-
-
0028245481
-
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies
-
Hamel BCJ, Mariman ECM, van Beersum SEC, Schoonbrood-Lenssen AMJ, Ropers H-H. 1994. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. Am J Med Genet 51:591-597.
-
(1994)
Am J Med Genet
, vol.51
, pp. 591-597
-
-
Hamel, B.C.J.1
Mariman, E.C.M.2
Van Beersum, S.E.C.3
Schoonbrood-Lenssen, A.M.J.4
Ropers, H.-H.5
-
12
-
-
0027491207
-
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
-
Ladda RL, Zonana J, Ramer JC, Mascari MJ, Rogan PK. 1993. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. Am J Med Genet 47:550-555.
-
(1993)
Am J Med Genet
, vol.47
, pp. 550-555
-
-
Ladda, R.L.1
Zonana, J.2
Ramer, J.C.3
Mascari, M.J.4
Rogan, P.K.5
-
13
-
-
0021850103
-
Multilocus linkage analysis in human: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J. 1985. Multilocus linkage analysis in human: detection of linkage and estimation of recombination. Am J Hum Genet 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
-
14
-
-
0029890398
-
XLMR genes: Update 1996
-
Lubs HA, Chiurazzi P, Arena JF, Schwartz C, Tranebjaerg L, Neri. 1996. XLMR genes: update 1996. Am J Med Genet 64:147-157.
-
(1996)
Am J Med Genet
, vol.64
, pp. 147-157
-
-
Lubs, H.A.1
Chiurazzi, P.2
Arena, J.F.3
Schwartz, C.4
Tranebjaerg, L.5
Neri6
-
15
-
-
0000036322
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 19:6968.
-
(1988)
Nucl Acids Res
, vol.19
, pp. 6968
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
16
-
-
0023275513
-
Linkage of an X-chromosome cleft palate gene
-
Moore GE, Ivens A, Chambers J, Farrall M, Williamson R, Page D, Bjornsson A, Arnason A, Jensson O. 1987. Linkage of an X-chromosome cleft palate gene. Nature 326:91-92.
-
(1987)
Nature
, vol.326
, pp. 91-92
-
-
Moore, G.E.1
Ivens, A.2
Chambers, J.3
Farrall, M.4
Williamson, R.5
Page, D.6
Bjornsson, A.7
Arnason, A.8
Jensson, O.9
-
17
-
-
0031036378
-
Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK)
-
Reish O, Gorlin RJ, Hordinsky M, Rest EB, Burke B, Berry SA. 1997. Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK). Am J Med Genet 68:386-390.
-
(1997)
Am J Med Genet
, vol.68
, pp. 386-390
-
-
Reish, O.1
Gorlin, R.J.2
Hordinsky, M.3
Rest, E.B.4
Burke, B.5
Berry, S.A.6
-
18
-
-
0028881136
-
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2
-
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, Opitz JM, Muenke M. 1995. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genet 11: 459-461.
-
(1995)
Nature Genet
, vol.11
, pp. 459-461
-
-
Robin, N.H.1
Feldman, G.J.2
Aronson, A.L.3
Mitchell, H.F.4
Weksberg, R.5
Leonard, C.O.6
Burton, B.K.7
Josephson, K.D.8
Laxova, R.9
Aleck, K.A.10
Allanson, J.E.11
Guion-Almeida, M.L.12
Martin, R.A.13
Leichtman, L.G.14
Price, R.A.15
Opitz, J.M.16
Muenke, M.17
-
19
-
-
0014607265
-
Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family
-
Snyder RD, Robinson A. 1969. Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediat 8:669-574.
-
(1969)
Clin Pediat
, vol.8
, pp. 669-1574
-
-
Snyder, R.D.1
Robinson, A.2
-
20
-
-
0020502312
-
Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother
-
Tabor A, Andersen O, Lundsteen C, Niebuhr E, Sardemann. 1983. Interstitial deletion in the "critical region" of the long arm of the X chromosome in a mentally retarded boy and his normal mother. Hum Genet 64:196-199.
-
(1983)
Hum Genet
, vol.64
, pp. 196-199
-
-
Tabor, A.1
Andersen, O.2
Lundsteen, C.3
Niebuhr, E.4
Sardemann5
-
21
-
-
0023230108
-
A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance
-
Tolmie JL, Patrick A, Yates JRW. 1987. A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance. Am J Med Genet 27:913-919.
-
(1987)
Am J Med Genet
, vol.27
, pp. 913-919
-
-
Tolmie, J.L.1
Patrick, A.2
Yates, J.R.W.3
-
22
-
-
0030016056
-
Cloning and chracterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1
-
Van der Maarel SM, Scholten IHJM, Huber I, Philippe C, Suijke-rbuijk RF, Gilgenkrantz, Kere J, Cremers FPM, Ropers HH. 1996. Cloning and chracterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Hum Mol Genet 5:887-897.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 887-897
-
-
Van Der Maarel, S.M.1
Scholten, I.H.J.M.2
Huber, I.3
Philippe, C.4
Suijke-rbuijk, R.F.5
Gilgenkrantz6
Kere, J.7
Cremers, F.P.M.8
Ropers, H.H.9
-
23
-
-
0018305178
-
X-linked hypogonadism, gynaecomastia, mental retardation, short stature and obesity a new syndrome
-
Vasquez SB, Hurst DL, Sotos JF. 1979. X-linked hypogonadism, gynaecomastia, mental retardation, short stature and obesity a new syndrome. J Pediatr 94:56-60.
-
(1979)
J Pediatr
, vol.94
, pp. 56-60
-
-
Vasquez, S.B.1
Hurst, D.L.2
Sotos, J.F.3
|