Chateil JF - Search Results

1

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. Rooryck C, et al. Among authors: chateil jf. Eur J Med Genet. 2009 Nov-Dec;52(6):446-9. doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3. Eur J Med Genet. 2009. PMID: 19733267

2

Brachydactyly type A1 with short humerus and associated skeletal features.

Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF. Lacombe D, et al. Among authors: chateil jf. Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761. Am J Med Genet A. 2010. PMID: 21077205

3

Costello syndrome and neurological abnormalities.

Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Among authors: chateil jf. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.

4

Association of external auditory canal atresia, vertical talus, and hypertelorism: confirmation of Rasmussen syndrome.

Julia S, Pedespan JM, Boudard P, Barbier R, Gavilan-Cellie I, Chateil JF, Lacombe D. Julia S, et al. Among authors: chateil jf. Am J Med Genet. 2002 Jun 15;110(2):179-81. doi: 10.1002/ajmg.10433. Am J Med Genet. 2002. PMID: 12116258

5

X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.

Chassaing N, Siani V, Carles D, Delezoide AL, Alberti EM, Battin J, Chateil JF, Gilbert-Dussardier B, Coupry I, Arveiler B, Saura R, Lacombe D. Chassaing N, et al. Among authors: chateil jf. Am J Med Genet A. 2005 Aug 1;136A(4):307-12. doi: 10.1002/ajmg.a.30570. Am J Med Genet A. 2005. PMID: 16001442

6

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M. Flöttmann R, et al. Among authors: chateil jf. Eur J Hum Genet. 2016 Aug;24(8):1132-6. doi: 10.1038/ejhg.2015.266. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733284 Free PMC article.

7

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

Lamireau T, Olschwang S, Rooryck C, Le Bail B, Chateil JF, Lacombe D. Lamireau T, et al. Among authors: chateil jf. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20. doi: 10.1097/01.mpg.0000151762.51287.7d. J Pediatr Gastroenterol Nutr. 2005. PMID: 15990641 No abstract available.

8

A patient with hydranencephaly and PEHO-like dysmorphic features.

Goizet C, Espil-Taris C, Husson M, Chateil JF, Pedespan JM, Lacombe D. Goizet C, et al. Among authors: chateil jf. Ann Genet. 2003 Jan-Mar;46(1):25-8. doi: 10.1016/s0003-3995(03)00003-0. Ann Genet. 2003. PMID: 12818526

9

Neurofibromatosis type 1 with undescribed osseous abnormalities: new features?

Leruste A, Chateil JF, Ramirez S, Bellanné C, Vidaud D, Lacombe D. Leruste A, et al. Among authors: chateil jf. Clin Dysmorphol. 2009 Apr;18(2):92-94. doi: 10.1097/MCD.0b013e3283279a28. Clin Dysmorphol. 2009. PMID: 19238080 No abstract available.

10

Oculo-ectodermal syndrome: a new tumour predisposition syndrome.

Federici S, Griffiths D, Siberchicot F, Chateil JF, Gilbert B, Lacombe D. Federici S, et al. Among authors: chateil jf. Clin Dysmorphol. 2004 Apr;13(2):81-83. Clin Dysmorphol. 2004. PMID: 15057122

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