Plauchu H - Search Results

1

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: plauchu h. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

2

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Among authors: plauchu h. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.

3

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. Among authors: plauchu h. 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.

4

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. Morlé L, et al. Among authors: plauchu h. Am J Hum Genet. 2000 Dec;67(6):1592-7. doi: 10.1086/316894. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11035633 Free PMC article.

5

An extension of the admixture test for the study of genetic heterogeneity in hereditary multiple exostoses.

Legeai-Mallet L, Margaritte-Jeannin P, Lemdani M, Le Merrer M, Plauchu H, Maroteaux P, Munnich A, Clerget-Darpoux F. Legeai-Mallet L, et al. Among authors: plauchu h. Hum Genet. 1997 Mar;99(3):298-302. doi: 10.1007/s004390050361. Hum Genet. 1997. PMID: 9050912

6

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

Martin-Denavit T, Duthel S, Giraud S, Olschwang S, Saurin JC, Plauchu H. Martin-Denavit T, et al. Among authors: plauchu h. Clin Genet. 2001 Aug;60(2):125-31. doi: 10.1034/j.1399-0004.2001.600206.x. Clin Genet. 2001. PMID: 11553046

7

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, Bussière P, Freisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu R, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy B. Mornet E, et al. Among authors: plauchu h. Eur J Hum Genet. 1998 Jul-Aug;6(4):308-14. doi: 10.1038/sj.ejhg.5200190. Eur J Hum Genet. 1998. PMID: 9781036

8

Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.

Khau Van Kien P, Wolf JE, Mathieu F, Zhu L, Salve N, Lalande A, Bonnet C, Lesca G, Plauchu H, Dellinger A, Nivelon-Chevallier A, Brunotte F, Jeunemaitre X. Khau Van Kien P, et al. Among authors: plauchu h. Eur J Hum Genet. 2004 Mar;12(3):173-80. doi: 10.1038/sj.ejhg.5201119. Eur J Hum Genet. 2004. PMID: 14722581

9

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: plauchu h. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940

10

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

Kloeckener-Gruissem B, Neidhardt J, Magyar I, Plauchu H, Zech JC, Morlé L, Palmer-Smith SM, Macdonald MJ, Nas V, Fry AE, Berger W. Kloeckener-Gruissem B, et al. Among authors: plauchu h. Eur J Hum Genet. 2013 Mar;21(3):352-6. doi: 10.1038/ejhg.2012.137. Epub 2012 Jun 27. Eur J Hum Genet. 2013. PMID: 22739342 Free PMC article.

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