Schinzel A - Search Results

1

Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis.

Zonana J, Schinzel A, Upadhyaya M, Thomas NS, Anton-Lamprecht I, Harper PS. Zonana J, et al. Among authors: schinzel a. Am J Med Genet. 1990 Jan;35(1):132-5. doi: 10.1002/ajmg.1320350125. Am J Med Genet. 1990. PMID: 2301463

2

Prenatal diagnosis of anhydrotic ectodermal dysplasia.

Anton-Lamprecht I, Arnold ML, Rauskolb R, Schinzel A, Schmid W, Schnyder UW. Anton-Lamprecht I, et al. Among authors: schinzel a. Hum Genet. 1982;62(2):180. doi: 10.1007/BF00282312. Hum Genet. 1982. PMID: 7160849 No abstract available.

3

Prenatal diagnosis of anhidrotic ectodermal dysplasia.

Arnold ML, Rauskolb R, Anton-Lamprecht I, Schinzel A, Schmid W. Arnold ML, et al. Among authors: schinzel a. Prenat Diagn. 1984 Mar-Apr;4(2):85-98. doi: 10.1002/pd.1970040202. Prenat Diagn. 1984. PMID: 6739441

4

Report of the committee on clinical disorders and chromosomal deletion syndromes.

Harper PS, Frézal J, Ferguson-Smith MA, Schinzel A. Harper PS, et al. Among authors: schinzel a. Cytogenet Cell Genet. 1989;51(1-4):563-611. doi: 10.1159/000132808. Cytogenet Cell Genet. 1989. PMID: 2676384 Review. No abstract available.

5

Report of the committee on clinical disorders and chromosomal deletion syndromes.

Harper P, Frézal J, Ferguson-Smith M, Schinzel A. Harper P, et al. Among authors: schinzel a. Cytogenet Cell Genet. 1988;49(1-3):254-6. doi: 10.1159/000132670. Cytogenet Cell Genet. 1988. PMID: 3203545 No abstract available.

6

Microdeletion syndromes, balanced translocations, and gene mapping.

Schinzel A. Schinzel A. J Med Genet. 1988 Jul;25(7):454-62. doi: 10.1136/jmg.25.7.454. J Med Genet. 1988. PMID: 3050093 Free PMC article. Review.

7

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?

Zankl A, Scheffer H, Schinzel A. Zankl A, et al. Among authors: schinzel a. Am J Med Genet A. 2004 May 15;127A(1):74-80. doi: 10.1002/ajmg.a.20646. Am J Med Genet A. 2004. PMID: 15103722

8

Intrachromosomal triplication of 15q11-q13.

Schinzel AA, Brecevic L, Bernasconi F, Binkert F, Berthet F, Wuilloud A, Robinson WP. Schinzel AA, et al. J Med Genet. 1994 Oct;31(10):798-803. doi: 10.1136/jmg.31.10.798. J Med Genet. 1994. PMID: 7837257 Free PMC article.

9

A 5-year-old girl with interstitial deletion of 3p14: clinical, psychologic, cytogenetic, and molecular studies.

Schinzel A, Gundelfinger R, Dutly F, Baumer A, Binkert F. Schinzel A, et al. Am J Med Genet. 1998 May 26;77(4):302-5. Am J Med Genet. 1998. PMID: 9600740

10

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11.

Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Hebisch G, Schinzel A. Dutly F, et al. Among authors: schinzel a. Am J Med Genet. 1998 Oct 12;79(5):347-53. doi: 10.1002/(sici)1096-8628(19981012)79:5<347::aid-ajmg4>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9779800

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