Plauchu H - Search Results

1

A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12.

Bonnet D, Pelet A, Legeai-Mallet L, Sidi D, Mathieu M, Parent P, Plauchu H, Serville F, Schinzel A, Weissenbach J, et al. Bonnet D, et al. Among authors: plauchu h. Nat Genet. 1994 Apr;6(4):405-8. doi: 10.1038/ng0494-405. Nat Genet. 1994. PMID: 8054983

2

A gene for hereditary multiple exostoses maps to chromosome 19p.

Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. Le Merrer M, et al. Among authors: plauchu h. Hum Mol Genet. 1994 May;3(5):717-22. doi: 10.1093/hmg/3.5.717. Hum Mol Genet. 1994. PMID: 8081357

3

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

4

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q.

Vincent P, Plauchu H, Hazan J, Fauré S, Weissenbach J, Godet J. Vincent P, et al. Among authors: plauchu h. Hum Mol Genet. 1995 May;4(5):945-9. doi: 10.1093/hmg/4.5.945. Hum Mol Genet. 1995. PMID: 7633456

5

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

Mathieu M, Piussan C, Thepot F, Gouget A, Lacombe D, Pedespan JM, Serville F, Fontan D, Ruffie M, Nivelon-Chevallier A, Amblard F, Chauveau P, Moirot H, Chabrolle JP, Croquette MF, Teyssier M, Plauchu H, Pelissier MC, Gilgenkrantz S, Turc-Carel C, Turleau C, Prieur M, Le Merrer M, Gonzales M, Journel H, et al. Mathieu M, et al. Among authors: plauchu h. Ann Genet. 1997;40(1):45-54. Ann Genet. 1997. PMID: 9150850

6

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Chaïb H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. Chaïb H, et al. Among authors: plauchu h. Hum Mol Genet. 1994 Dec;3(12):2219-22. doi: 10.1093/hmg/3.12.2219. Hum Mol Genet. 1994. PMID: 7881423

7

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

8

[Association of VACTERL and hydrocephalus: a new familial entity].

Briard ML, le Merrer M, Plauchu H, Dodinval P, Lambotte C, Moraine C, Serville F. Briard ML, et al. Among authors: plauchu h. Ann Genet. 1984;27(4):220-3. Ann Genet. 1984. PMID: 6335367 French.

9

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.

10

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P. Verot L, et al. Among authors: plauchu h. Am J Med Genet A. 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. Am J Med Genet A. 2003. PMID: 12949969

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