-
2
-
-
0031963105
-
Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients
-
Lajeunie E, Le Merrer M, Marchac D, Renier D. Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 1998: 2: 211-215.
-
(1998)
Am. J. Med. Genet.
, vol.2
, pp. 211-215
-
-
Lajeunie, E.1
Le Merrer, M.2
Marchac, D.3
Renier, D.4
-
3
-
-
0041819790
-
Clinical and genetic aspects of trigonocephaly: A study of 25 cases
-
Azimi C, Kennedy SJ, Chitayat D et al. Clinical and genetic aspects of trigonocephaly: a study of 25 cases. Am J Med Genet A 2003: 117 (2): 127-135.
-
(2003)
Am. J. Med. Genet. A
, vol.117
, Issue.2
, pp. 127-135
-
-
Azimi, C.1
Kennedy, S.J.2
Chitayat, D.3
-
5
-
-
0024998197
-
Autosomal dominant craniosynostosis of the sutura metopica
-
Hennekam RCM, Van den Boogaard MJ. Autosomal dominant craniosynostosis of the sutura metopica. Clin Genet 1990: 38: 374-377.
-
(1990)
Clin. Genet.
, vol.38
, pp. 374-377
-
-
Hennekam, R.C.M.1
Van den Boogaard, M.J.2
-
6
-
-
0019487525
-
Familial trigonocephaly associated with short stature and developmental delay
-
Say B, Meyer J. Familial trigonocephaly associated with short stature and developmental delay. Am J Dis Child 1981: 135 (8): 711-712.
-
(1981)
Am. J. Dis. Child.
, vol.135
, Issue.8
, pp. 711-712
-
-
Say, B.1
Meyer, J.2
-
7
-
-
0034767530
-
Craniosynostosis and fetal exposure to sodium valproate
-
Lajeunie E, Barcik U, Thorne JA, Ghouzzi VE, Bourgeiois M, Renier D. Craniosynostosis and fetal exposure to sodium valproate. J Neurosurg 2001: 95 (5): 778-782.
-
(2001)
J. Neurosurg.
, vol.95
, Issue.5
, pp. 778-782
-
-
Lajeunie, E.1
Barcik, U.2
Thorne, J.A.3
Ghouzzi, V.E.4
Bourgeiois, M.5
Renier, D.6
-
8
-
-
0342467828
-
Metopic suture craniosynostosis: Sodium valproate teratogenic effect. Case report
-
Assencio-Ferreira VJ, Abraham R, Veiga JC, Santos KC. Metopic suture craniosynostosis: sodium valproate teratogenic effect. Case report. Arq Neuropsiquiatr 2001: 59 (2-B): 417-420.
-
(2001)
Arq. Neuropsiquiatr.
, vol.59
, Issue.2 B
, pp. 417-420
-
-
Assencio-Ferreira, V.J.1
Abraham, R.2
Veiga, J.C.3
Santos, K.C.4
-
9
-
-
0035043261
-
Toward an understanding of nonsyndromic craniosynostosis: Altered patterns of TGF-β receptor and FGF receptor expression induced by intrauterine head constraint
-
Hunenko O, Karmacharya J, Ong G, Kirschner RE. Toward an understanding of nonsyndromic craniosynostosis: altered patterns of TGF-β receptor and FGF receptor expression induced by intrauterine head constraint. Ann Plast Surg 2001: 46: 546-554.
-
(2001)
Ann. Plast. Surg.
, vol.46
, pp. 546-554
-
-
Hunenko, O.1
Karmacharya, J.2
Ong, G.3
Kirschner, R.E.4
-
10
-
-
0032231333
-
A chromosomal deletion map of human malformations
-
Brewer C, Holloway S, Zawalnyski P, Schinzel A, FitzPatrick D. A chromosomal deletion map of human malformations. Am J Hum Genet 1998: 63 (4): 1153-1159.
-
(1998)
Am. J. Hum. Genet.
, vol.63
, Issue.4
, pp. 1153-1159
-
-
Brewer, C.1
Holloway, S.2
Zawalnyski, P.3
Schinzel, A.4
FitzPatrick, D.5
-
11
-
-
0023734622
-
Eleven new cases of del(9p) and features from 80 cases
-
Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 1988: 25 (11): 741-749.
-
(1988)
J. Med. Genet.
, vol.25
, Issue.11
, pp. 741-749
-
-
Huret, J.L.1
Leonard, C.2
Forestier, B.3
Rethore, M.O.4
Lejeune, J.5
-
12
-
-
0028811078
-
Two craniosynostotic patients with 11q deletions, and review of 48 cases
-
Lewanda AF, Morsey S, Reid CS, Jabs EW. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 1995: 59 (2): 193-198.
-
(1995)
Am. J. Med. Genet.
, vol.59
, Issue.2
, pp. 193-198
-
-
Lewanda, A.F.1
Morsey, S.2
Reid, C.S.3
Jabs, E.W.4
-
13
-
-
0028910140
-
Clinical and molecular characterization of patients with distal 11q deletions
-
Penny L, Dell'Aquila M, Jones M et al. Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet 1995: 56: 676-683.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 676-683
-
-
Penny, L.1
Dell'Aquila, M.2
Jones, M.3
-
14
-
-
0028241918
-
Six cases of 7p deletion: Clinical, cytogenetic and molecular studies
-
Chotai KA, Brueton LA, van Herwerden L et al. Six cases of 7p deletion: clinical, cytogenetic and molecular studies. Am J Med Genet 1994: 51: 270-276.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 270-276
-
-
Chotai, K.A.1
Brueton, L.A.2
van Herwerden, L.3
-
15
-
-
0033357990
-
Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome
-
Christ LA, Crowe CA, Micale MA, Conroy J, Schwartz S. Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 1999: 65: 1387-1395.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1387-1395
-
-
Christ, L.A.1
Crowe, C.A.2
Micale, M.A.3
Conroy, J.4
Schwartz, S.5
-
17
-
-
16944366964
-
Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function
-
Skuse DH, James RS, Bishop DV et al. Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function. Nature 1997: 387 (6634): 705-708.
-
(1997)
Nature
, vol.387
, Issue.6634
, pp. 705-708
-
-
Skuse, D.H.1
James, R.S.2
Bishop, D.V.3
-
18
-
-
20244366799
-
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
-
(Epub 10 March 2003)
-
Dode C, Levilliers J, Dupont JM et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003: 33 (4): 463-465 (Epub 10 March 2003).
-
(2003)
Nat. Genet.
, vol.33
, Issue.4
, pp. 463-465
-
-
Dode, C.1
Levilliers, J.2
Dupont, J.M.3
-
20
-
-
0025881892
-
Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome
-
Quarrell OW, Snell RG, Curtis MA, Roberts SH, Harper PS, Shaw DJ. Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet 1991: 28 (4): 256-259.
-
(1991)
J. Med. Genet.
, vol.28
, Issue.4
, pp. 256-259
-
-
Quarrell, O.W.1
Snell, R.G.2
Curtis, M.A.3
Roberts, S.H.4
Harper, P.S.5
Shaw, D.J.6
-
21
-
-
0035344660
-
Chromosome 22q11 microdeletion in conotruncal heart defects: Clinical presentation, parental origin and de novo mutations
-
Chung MY, Lu JH, Chien HP, Hwang B. Chromosome 22q11 microdeletion in conotruncal heart defects: clinical presentation, parental origin and de novo mutations. Int J Mol Med 2001: 7 (5): 501-505.
-
(2001)
Int. J. Mol. Med.
, vol.7
, Issue.5
, pp. 501-505
-
-
Chung, M.Y.1
Lu, J.H.2
Chien, H.P.3
Hwang, B.4
-
22
-
-
0035078603
-
Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation
-
Mainardi PC, Perfumo C, Cali A et al. Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation. J Med Genet 2001: 38 (3): 151-158.
-
(2001)
J. Med. Genet.
, vol.38
, Issue.3
, pp. 151-158
-
-
Mainardi, P.C.1
Perfumo, C.2
Cali, A.3
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