Lacombe D - Search Results

1

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, Coubes C, David A, Lyonnet S, Vilain C, Dieux-Coeslier A, Manouvrier S, Isidor B, Jacquemont ML, Julia S, Layet V, Naudion S, Odent S, Pasquier L, Pelras S, Philip N, Pierquin G, Prieur F, Aboussair N, Attie-Bitach T, Baujat G, Blanchet P, Blanchet C, Dollfus H, Doray B, Schaefer E, Edery P, Giuliano F, Goldenberg A, Goizet C, Guichet A, Herlin C, Lambert L, Leheup B, Martinovic J, Mercier S, Mignot C, Moutard ML, Perez MJ, Pinson L, Puechberty J, Willems M, Randrianaivo H, Szakszon K, Toutain A, Verloes A, Vigneron J, Sanchez E, Sarda P, Laplanche JL, Collet C. Vincent M, et al. Among authors: lacombe d. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Genet Med. 2016. PMID: 25790162 Free article.

2

New case of Toriello-Carey syndrome.

Lacombe D, Creusot G, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Feb 1;42(3):374-6. doi: 10.1002/ajmg.1320420325. Am J Med Genet. 1992. PMID: 1536182

3

Obesity: a new feature of WAGR (del 11p) syndrome.

Marlin S, Couet D, Lacombe D, Cessans C, Bonneau D. Marlin S, et al. Among authors: lacombe d. Clin Dysmorphol. 1994 Jul;3(3):255-7. Clin Dysmorphol. 1994. PMID: 7526938

4

Clinical identification of a human equivalent to the short ear (se) murine phenotype.

Lacombe D, Toutain A, Gorlin RJ, Oley CA, Battin J. Lacombe D, et al. Ann Genet. 1994;37(4):184-91. Ann Genet. 1994. PMID: 7710253

5

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J. Lacombe D, et al. Genet Couns. 1993;4(3):193-8. Genet Couns. 1993. PMID: 8267926

6

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

Flintoff WF, Bahuau M, Lyonnet S, Gilgenkrantz S, Lacombe D, Marçon F, Levilliers J, Kachaner J, Munnich A, Le Merrer M. Flintoff WF, et al. Among authors: lacombe d. Am J Med Genet. 1993 Jul 1;46(6):700-5. doi: 10.1002/ajmg.1320460621. Am J Med Genet. 1993. PMID: 8362913

7

Phenotypic variability in van der Woude syndrome.

Lacombe D, Pedespan JM, Fontan D, Chateil JF, Verloes A. Lacombe D, et al. Genet Couns. 1995;6(3):221-6. Genet Couns. 1995. PMID: 8588850

8

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease.

Amiel J, Attié T, Jan D, Pelet A, Edery P, Bidaud C, Lacombe D, Tam P, Simeoni J, Flori E, Nihoul-Fékété C, Munnich A, Lyonnet S. Amiel J, et al. Among authors: lacombe d. Hum Mol Genet. 1996 Mar;5(3):355-7. doi: 10.1093/hmg/5.3.355. Hum Mol Genet. 1996. PMID: 8852660

9

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

Levy-Mozziconacci A, Lacombe D, Leheup B, Wernert F, Rouault F, Philip N. Levy-Mozziconacci A, et al. Among authors: lacombe d. Arch Pediatr. 1996 Aug;3(8):761-8. doi: 10.1016/0929-693x(96)82157-9. Arch Pediatr. 1996. PMID: 8998528 French.

10

Increased paternal age in CHARGE association.

Tellier AL, Lyonnet S, Cormier-Daire V, de Lonlay P, Abadie V, Baumann C, Bonneau D, Labrune P, Lacombe D, Le Merrer M, Nivelon A, Philip N, Briard ML, Munnich A. Tellier AL, et al. Among authors: lacombe d. Clin Genet. 1996 Dec;50(6):548-50. doi: 10.1111/j.1399-0004.1996.tb02736.x. Clin Genet. 1996. PMID: 9147897

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