Lacombe D - Search Results

1

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H. Nava C, et al. Among authors: lacombe d. J Med Genet. 2007 Dec;44(12):763-71. doi: 10.1136/jmg.2007.050450. Epub 2007 Aug 17. J Med Genet. 2007. PMID: 17704260 Free PMC 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

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

4

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

5

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

6

Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.

Lacombe D, Serville F, Marchand D, Battin J. Lacombe D, et al. J Med Genet. 1993 Aug;30(8):700-3. doi: 10.1136/jmg.30.8.700. J Med Genet. 1993. PMID: 8411061 Free PMC article.

7

Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.

Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E. Verloes A, et al. Among authors: lacombe d. Eur J Pediatr. 1993 Jan;152(1):75-7. doi: 10.1007/BF02072522. Eur J Pediatr. 1993. PMID: 8444212 Review.

8

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

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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