-
1
-
-
0002675414
-
Chromosome 9, partial monosomy 9p
-
Buyse ML (ed.). Blackwell Scientific Publications: Cambridge, MA
-
Bianchi DW. 1990. Chromosome 9, partial monosomy 9p. In British Defects Encyclopedia, Buyse ML (ed). Blackwell Scientific Publications: Cambridge, MA; 353-354.
-
(1990)
British Defects Encyclopedia
, pp. 353-354
-
-
Bianchi, D.W.1
-
2
-
-
0034193607
-
A new submicroscopic deletion that refines the 9p region for sex reversal
-
Calvari V, Bertini V, De Grandi A, et al. 2000. A new submicroscopic deletion that refines the 9p region for sex reversal. Genomics 65: 203-212.
-
(2000)
Genomics
, vol.65
, pp. 203-212
-
-
Calvari, V.1
Bertini, V.2
De Grandi, A.3
-
3
-
-
0031012353
-
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
-
el Ghouzzi V, Le Merrer M, Perrin-Schmitt F, et al. 1997. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15: 42-46.
-
(1997)
Nat Genet
, vol.15
, pp. 42-46
-
-
El Ghouzzi, V.1
Le Merrer, M.2
Perrin-Schmitt, F.3
-
4
-
-
0005560228
-
Chromosome 7, trisomy 7p2
-
Buyse ML (ed.). Blackwell Scientific Publications: Cambridge, MA
-
Fryns J-P. 1990. Chromosome 7, trisomy 7p2. In British Defects Encyclopedia, Buyse ML (ed). Blackwell Scientific Publications: Cambridge, MA; 348-349.
-
(1990)
British Defects Encyclopedia
, pp. 348-349
-
-
Fryns, J.-P.1
-
5
-
-
2542462095
-
Genitourinary phenotype in XX patients with distal 9p monosomy
-
Fujimoto Y, Okuyama T, Iijima M, et al. 2004. Genitourinary phenotype in XX patients with distal 9p monosomy. Mol Genet Metab 82: 173-179.
-
(2004)
Mol Genet Metab
, vol.82
, pp. 173-179
-
-
Fujimoto, Y.1
Okuyama, T.2
Iijima, M.3
-
6
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
Howard TD, Paznekas WA, Green ED, et al. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15: 36-41.
-
(1997)
Nat Genet
, vol.15
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.D.3
-
7
-
-
0032231374
-
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1
-
Johnson D, Horsley SW, Moloney DM, et al. 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63: 1282-1293.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1282-1293
-
-
Johnson, D.1
Horsley, S.W.2
Moloney, D.M.3
-
8
-
-
0035078623
-
Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes
-
Mégarbané A, Le Lorc'H M, Elghezal H, et al. 2001. Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes. J Med Genet 38: 178-182.
-
(2001)
J Med Genet
, vol.38
, pp. 178-182
-
-
Mégarbané, A.1
Le Lorc'H, M.2
Elghezal, H.3
-
9
-
-
0033678603
-
Sex determining gene(s) on distal 9p: Clinical and molecular studies in six cases
-
Muroya K, Okuyama T, Goishi K, et al. 2000. Sex determining gene(s) on distal 9p: clinical and molecular studies in six cases. J Clin Endocrinol Metab 85: 3094-3100.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 3094-3100
-
-
Muroya, K.1
Okuyama, T.2
Goishi, K.3
-
10
-
-
0035158174
-
Female gonadal development in XX patients with distal 9p monosomy
-
Ogata T, Muroya K, Ohashi H, Mochizuki H, Hasegawa T, Kaji M. 2001. Female gonadal development in XX patients with distal 9p monosomy. Eur J Endocrinol 145: 613-617.
-
(2001)
Eur J Endocrinol
, vol.145
, pp. 613-617
-
-
Ogata, T.1
Muroya, K.2
Ohashi, H.3
Mochizuki, H.4
Hasegawa, T.5
Kaji, M.6
-
11
-
-
0033808669
-
Deletion of 9p and the quest for a conserved mechanism of sex determination
-
Ottolenghi C, McElreavey K. 2000. Deletion of 9p and the quest for a conserved mechanism of sex determination. Mol Genet Metab 71: 397-404.
-
(2000)
Mol Genet Metab
, vol.71
, pp. 397-404
-
-
Ottolenghi, C.1
McElreavey, K.2
-
12
-
-
0034162155
-
The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain
-
Ottolenghi C, Veitia R, Quintana-Murci L, et al. 2000. The region on 9p associated with 46,XY sex reversal contains several transcripts expressed in the urogenital system and a novel doublesex-related domain. Genomics 64: 170-178.
-
(2000)
Genomics
, vol.64
, pp. 170-178
-
-
Ottolenghi, C.1
Veitia, R.2
Quintana-Murci, L.3
-
13
-
-
0033009983
-
A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators
-
Raymond CS, Parker ED, Kettlewell JR, et al. 1999. A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators. Hum Mol Genet 8: 989-996.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 989-996
-
-
Raymond, C.S.1
Parker, E.D.2
Kettlewell, J.R.3
-
14
-
-
0032509983
-
Evidence for evolutionary conservation of sex-determining genes
-
Raymond CS, Shamu CE, Shen MM, et al. 1998. Evidence for evolutionary conservation of sex-determining genes. Nature 391: 691-695.
-
(1998)
Nature
, vol.391
, pp. 691-695
-
-
Raymond, C.S.1
Shamu, C.E.2
Shen, M.M.3
-
16
-
-
18444375272
-
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
-
Vialard F, Ottolenghi C, Gonzales M, et al. 2002. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses. J Med Genet 39: 514-518.
-
(2002)
J Med Genet
, vol.39
, pp. 514-518
-
-
Vialard, F.1
Ottolenghi, C.2
Gonzales, M.3
|