Faivre L - Search Results

1

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.

De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B. De Rocker N, et al. Among authors: faivre l. Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18. Genet Med. 2015. PMID: 25232846 Free article.

2

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.

Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. J Med Genet. 2000 Jan;37(1):52-4. doi: 10.1136/jmg.37.1.52. J Med Genet. 2000. PMID: 10633136 Free PMC article.

3

Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism.

Faivre L, Viot G, Prieur M, Turleau C, Gosset P, Romana S, Munnich A, Vekemans M, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Apr 10;91(4):273-6. Am J Med Genet. 2000. PMID: 10766982

4

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Faivre L, Prieur AM, Le Merrer M, Hayem F, Penet C, Woo P, Hofer M, Dagoneau N, Sermet I, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2000 Nov 27;95(3):233-6. doi: 10.1002/1096-8628(20001127)95:3<233::aid-ajmg9>3.0.co;2-3. Am J Med Genet. 2000. PMID: 11102929

5

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.

Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F. Thauvin-Robinet C, et al. Among authors: faivre l. Am J Med Genet A. 2004 Apr 30;126A(3):303-7. doi: 10.1002/ajmg.a.20596. Am J Med Genet A. 2004. PMID: 15054847 Review.

6

Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.

Faivre L, Le Merrer M, Douvier S, Laurent N, Thauvin-Robinet C, Rousseau T, Vereecke I, Sagot P, Delezoide AL, Coucke P, Mortier G. Faivre L, et al. Am J Med Genet A. 2004 Apr 30;126A(3):308-12. doi: 10.1002/ajmg.a.20597. Am J Med Genet A. 2004. PMID: 15054848

7

Microcephaly is not mandatory for the diagnosis of mosaic variegated aneuploidy syndrome.

Callier P, Faivre L, Cusin V, Marle N, Thauvin-Robinet C, Sandre D, Rousseau T, Sagot P, Lacombe E, Faber V, Mugneret F. Callier P, et al. Among authors: faivre l. Am J Med Genet A. 2005 Aug 30;137(2):204-7. doi: 10.1002/ajmg.a.30783. Am J Med Genet A. 2005. PMID: 16059936 Review.

8

Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.

Callier P, Faivre L, Marle N, Thauvin-Robinet C, Sanlaville D, Gosset P, Prieur M, Labenne M, Huet F, Mugneret F. Callier P, et al. Among authors: faivre l. Am J Med Genet A. 2006 Sep 1;140A(17):1859-63. doi: 10.1002/ajmg.a.31395. Am J Med Genet A. 2006. PMID: 16892304

9

Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation.

Thauvin-Robinet C, Callier P, Laurent N, Rousseau T, Masurel-Paulet A, Marle N, Huet F, Sagot P, Faivre L, Mugneret F. Thauvin-Robinet C, et al. Among authors: faivre l. Prenat Diagn. 2007 Jun;27(6):555-9. doi: 10.1002/pd.1724. Prenat Diagn. 2007. PMID: 17385797

10

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

Faivre L, Collod-Beroud G, Loeys BL, Child A, Binquet C, Gautier E, Callewaert B, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Marziliano N, Dietz HC, Halliday D, Beroud C, Bonithon-Kopp C, Claustres M, Muti C, Plauchu H, Robinson PN, Adès LC, Biggin A, Benetts B, Brett M, Holman KJ, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Am J Hum Genet. 2007 Sep;81(3):454-66. doi: 10.1086/520125. Epub 2007 Jul 25. Am J Hum Genet. 2007. PMID: 17701892 Free PMC article.

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