Alembik Y - Search Results

1

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H. Minn D, et al. Among authors: alembik y. Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348. Am J Med Genet. 2002. PMID: 11977181 Review.

2

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

Stoll C, Kieny JR, Dott B, Alembik Y, Finck S. Stoll C, et al. Among authors: alembik y. Am J Med Genet. 1992 Feb 15;42(4):480-6. doi: 10.1002/ajmg.1320420413. Am J Med Genet. 1992. PMID: 1376967

3

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

Stoll C, Alembik Y, Dott B, Roth MP. Stoll C, et al. Among authors: alembik y. J Med Genet. 1991 May;28(5):325-9. doi: 10.1136/jmg.28.5.325. J Med Genet. 1991. PMID: 1842671 Free PMC article.

4

Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.

Stoll C, Huber C, Alembik Y, Terrade E, Maitrot D. Stoll C, et al. Among authors: alembik y. Am J Med Genet. 1990 Sep;37(1):124-7. doi: 10.1002/ajmg.1320370129. Am J Med Genet. 1990. PMID: 2240029

5

Linkage analysis suggests at least two loci for X-linked non-specific mental retardation.

Arveiler B, Alembik Y, Hanauer A, Jacobs P, Tranebjaerg L, Mikkelsen M, Puissant H, Piet LL, Mandel JL. Arveiler B, et al. Among authors: alembik y. Am J Med Genet. 1988 May-Jun;30(1-2):473-83. doi: 10.1002/ajmg.1320300150. Am J Med Genet. 1988. PMID: 3177465

6

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

Hanauer A, Alembik Y, Gilgenkrantz S, Mujica P, Nivelon-Chevallier A, Pembrey ME, Young ID, Mandel JL. Hanauer A, et al. Among authors: alembik y. Am J Med Genet. 1988 May-Jun;30(1-2):523-30. doi: 10.1002/ajmg.1320300154. Am J Med Genet. 1988. PMID: 3177469

7

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births.

Stoll C, Alembik Y, Dott B, Feingold J. Stoll C, et al. Among authors: alembik y. Am J Med Genet. 1994 Jan 1;49(1):114-7. doi: 10.1002/ajmg.1320490123. Am J Med Genet. 1994. PMID: 7864918

8

Twelve cases with hemihypertrophy: etiology and follow up.

Stoll C, Alembik Y, Steib JP, De Saint-Martin A. Stoll C, et al. Among authors: alembik y. Genet Couns. 1993;4(2):119-26. Genet Couns. 1993. PMID: 8357562

9

Mental retardation, ataxia, seizures, dysmorphia, and hydrocephaly in two sibs. Angelman syndrome or new syndrome.

Stoll C, Alembik Y, Dott B, Fischbach M, Chognot D. Stoll C, et al. Among authors: alembik y. Genet Couns. 1993;4(2):153-6. Genet Couns. 1993. PMID: 8357566

10

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.

Alembik Y, Christmann D, de Saint Martin A, Eliot M, Dollfus H, Pauly F, Stoll C. Alembik Y, et al. Ann Genet. 1999;42(4):225-30. Ann Genet. 1999. PMID: 10674163

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