Encha-Razavi F - Search Results

1

Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.

Benzacken B, Siffroi JP, Le Bourhis C, Krabchi K, Joyé N, Maschino F, Viguié F, Soulié J, Gonzales M, Migné G, Bucourt M, Encha-Razavi F, Carbillon L, Taillemite JL. Benzacken B, et al. J Med Genet. 1997 Nov;34(11):899-903. doi: 10.1136/jmg.34.11.899. J Med Genet. 1997. PMID: 9391882 Free PMC article.

2

Congenital hypothalamic hamartoma syndrome: nosological discussion and minimum diagnostic criteria of a possibly familial form.

Encha-Razavi F, Larroche JC, Roume J, Migne G, Delezoide AL, Gonzales M, Mulliez N. Encha-Razavi F, et al. Am J Med Genet. 1992 Jan 1;42(1):44-50. doi: 10.1002/ajmg.1320420111. Am J Med Genet. 1992. PMID: 1308364

3

Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome.

Encha Razavi F, Larroche JC, Roume J, Gonzales M, Kondo HC, Mulliez N. Encha Razavi F, et al. Am J Med Genet. 1996 Mar 1;62(1):16-22. doi: 10.1002/(SICI)1096-8628(19960301)62:1<16::AID-AJMG4>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8779318

4

Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.

Gonzales M, Verloes A, Saint Frison MH, Perrotez C, Bourdet O, Encha-Razavi F, Joyé N, Taillemite JL, Walbaum R, Pfeiffer R, Maroteaux P. Gonzales M, et al. Am J Med Genet A. 2005 Aug 1;136A(4):373-6. doi: 10.1002/ajmg.a.30537. Am J Med Genet A. 2005. PMID: 15988748

5

First occurrence of aprosencephaly/atelencephaly and holoprosencephaly in a family with a SIX3 gene mutation and phenotype/genotype correlation in our series of SIX3 mutations.

Pasquier L, Dubourg C, Gonzales M, Lazaro L, David V, Odent S, Encha-Razavi F. Pasquier L, et al. J Med Genet. 2005 Jan;42(1):e4. doi: 10.1136/jmg.2004.023416. J Med Genet. 2005. PMID: 15635066 Free PMC article. No abstract available.

6

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.

Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Sanlaville D, et al. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.

7

De novo subtelomeric deletion additional to an inherited apparently balanced reciprocal translocation.

Delahaye A, Pipiras E, Kanafani S, Touboul C, Vergnaud A, Encha-Razavi F, Sinico M, Benkhalifa M, Kasakyan S, Serero S, Wolf JP, Gérard-Blanluet M, Benzacken B. Delahaye A, et al. Fetal Diagn Ther. 2007;22(4):306-12. doi: 10.1159/000100797. Epub 2007 Mar 15. Fetal Diagn Ther. 2007. PMID: 17361086

8

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Laquerriere A, Gonzales M, Saillour Y, Cavallin M, Joyē N, Quēlin C, Bidat L, Dommergues M, Plessis G, Encha-Razavi F, Chelly J, Bahi-Buisson N, Poirier K. Laquerriere A, et al. Eur J Med Genet. 2016 Apr;59(4):249-56. doi: 10.1016/j.ejmg.2015.12.007. Epub 2015 Dec 28. Eur J Med Genet. 2016. PMID: 26732629 Free article.

9

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.

10

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Elliott AM, et al. Am J Med Genet. 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. Am J Med Genet. 2002. PMID: 11977163

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