Croquette MF - Search Results

1

Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations.

Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG. Luciani JJ, et al. Among authors: croquette mf. J Med Genet. 2003 Sep;40(9):690-6. doi: 10.1136/jmg.40.9.690. J Med Genet. 2003. PMID: 12960216 Free PMC article. No abstract available.

2

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

Stavropoulou C, Mignon C, Delobel B, Moncla A, Depetris D, Croquette MF, Mattei MG. Stavropoulou C, et al. Among authors: croquette mf. J Med Genet. 1998 Nov;35(11):932-8. doi: 10.1136/jmg.35.11.932. J Med Genet. 1998. PMID: 9832041 Free PMC article.

3

Identification and molecular characterization of a small 11q23.3 de novo duplication in a patient with Rett syndrome manifestations.

Delobel B, Delannoy V, Pini G, Zapella M, Tardieu M, Vallée L, Croquette MF. Delobel B, et al. Among authors: croquette mf. Am J Med Genet. 1998 Nov 16;80(3):273-80. Am J Med Genet. 1998. PMID: 9843053

4

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation.

Giraudeau F, Taine L, Biancalana V, Delobel B, Journel H, Missirian C, Lacombe D, Bonneau D, Parent P, Aubert D, Hauck Y, Croquette MF, Toutain A, Mattei MG, Loiseau HA, David A, Vergnaud G. Giraudeau F, et al. Among authors: croquette mf. J Med Genet. 2001 Feb;38(2):121-5. doi: 10.1136/jmg.38.2.121. J Med Genet. 2001. PMID: 11288712 Free PMC article. No abstract available.

5

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation.

Lossi AM, Laugier-Anfossi F, Depetris D, Gecz J, Gedeon A, Kooy F, Schwartz C, Mattei MG, Croquette MF, Villard L. Lossi AM, et al. Among authors: croquette mf. J Med Genet. 2002 Feb;39(2):113-7. doi: 10.1136/jmg.39.2.113. J Med Genet. 2002. PMID: 11836360 Free PMC article.

6

Clinical heterogeneity in 16 patients with inv dup 15 chromosome: cytogenetic and molecular studies, search for an imprinting effect.

Mignon C, Malzac P, Moncla A, Depetris D, Roeckel N, Croquette MF, Mattei MG. Mignon C, et al. Among authors: croquette mf. Eur J Hum Genet. 1996;4(2):88-100. doi: 10.1159/000472176. Eur J Hum Genet. 1996. PMID: 8744026

7

Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies.

Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, Rousseaux J, Rigot JM, Rumpler Y. Delobel B, et al. Among authors: croquette mf. Hum Genet. 1998 Jan;102(1):98-102. doi: 10.1007/s004390050660. Hum Genet. 1998. PMID: 9490306

8

Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.

Chettouh Z, Croquette MF, Delobel B, Gilgenkrants S, Leonard C, Maunoury C, Prieur M, Rethoré MO, Sinet PM, Chery M, et al. Chettouh Z, et al. Among authors: croquette mf. Am J Hum Genet. 1995 Jul;57(1):62-71. Am J Hum Genet. 1995. PMID: 7611297 Free PMC article.

9

[Smith-Magenis syndrome].

Livet MO, Moncla A, Delobel B, Croquette MF, Philip N, Vallée L. Livet MO, et al. Among authors: croquette mf. Arch Pediatr. 1997 Dec;4(12):1231-7. doi: 10.1016/s0929-693x(97)82615-2. Arch Pediatr. 1997. PMID: 9538429 French.

10

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association.

Oberlé I, Boué J, Croquette MF, Voelckel MA, Mattei MG, Mandel JL. Oberlé I, et al. Among authors: croquette mf. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):224-31. doi: 10.1002/ajmg.1320430136. Am J Med Genet. 1992. PMID: 1605195

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