Lacombe D - Search Results

1

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: lacombe d. 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

2

Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.

Lacombe D, Saura R, Taine L, Battin J. Lacombe D, et al. Am J Med Genet. 1992 Sep 1;44(1):126-8. doi: 10.1002/ajmg.1320440134. Am J Med Genet. 1992. PMID: 1519642

3

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

4

Proteus syndrome in 7 patients: clinical and genetic considerations.

Lacombe D, Taieb A, Vergnes P, Sarlangue J, Chateil JF, Bucco P, Nelson JR, Battin J, Maleville J. Lacombe D, et al. Genet Couns. 1991;2(2):93-101. Genet Couns. 1991. PMID: 1781960

5

Medulloblastoma in the nevoid basal-cell carcinoma syndrome: case reports and review of the literature.

Lacombe D, Chateil JF, Fontan D, Battin J. Lacombe D, et al. Genet Couns. 1990;1(3-4):273-7. Genet Couns. 1990. PMID: 2098052 Review.

6

Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance.

Lacombe D, Patton MA, Elleau C, Battin J. Lacombe D, et al. Eur J Pediatr. 1995 Aug;154(8):658-61. doi: 10.1007/BF02079072. Eur J Pediatr. 1995. PMID: 7588969 Review.

7

[Dysmorphology and syndromes: a job for genetic and pediatric specialists].

Battin J, Lacombe D. Battin J, et al. Among authors: lacombe d. Arch Pediatr. 1995 Jul;2(7):615-8. doi: 10.1016/0929-693x(96)81213-9. Arch Pediatr. 1995. PMID: 7663647 Review. French. No abstract available.

8

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

9

Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance.

Rapelanoro R, Taïeb A, Lacombe D. Rapelanoro R, et al. Among authors: lacombe d. Am J Med Genet. 1994 Oct 1;52(4):487-90. doi: 10.1002/ajmg.1320520417. Am J Med Genet. 1994. PMID: 7747764

10

Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.

Lacombe D, Bioulac-Sage P, Sibout M, Daussac E, Lesure F, Manchart JP, Battin J. Lacombe D, et al. Genet Couns. 1994;5(3):251-6. Genet Couns. 1994. PMID: 7811425

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