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413 results
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Angelman syndrome 2005: updated consensus for diagnostic criteria.
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Williams CA, et al. Among authors: schinzel aa. Am J Med Genet A. 2006 Mar 1;140(5):413-8. doi: 10.1002/ajmg.a.31074. Am J Med Genet A. 2006. PMID: 16470747
Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.
Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. Descipio C, et al. Among authors: schinzel aa. Am J Med Genet A. 2005 Apr 1;134A(1):3-11. doi: 10.1002/ajmg.a.30573. Am J Med Genet A. 2005. PMID: 15704124 Review.
We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent …
We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptos …
Prenatal diagnosis of mosaicism for a del(22)(q13).
Riegel M, Baumer A, Wisser J, Acherman J, Schinzel A. Riegel M, et al. Among authors: schinzel a. Prenat Diagn. 2000 Jan;20(1):76-9. doi: 10.1002/(sici)1097-0223(200001)20:1<76::aid-pd752>3.0.co;2-m. Prenat Diagn. 2000. PMID: 10701858
Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications.
Kotzot D, Martinez MJ, Bagci G, Basaran S, Baumer A, Binkert F, Brecevic L, Castellan C, Chrzanowska K, Dutly F, Gutkowska A, Karaüzüm SB, Krajewska-Walasek M, Luleci G, Miny P, Riegel M, Schuffenhauer S, Seidel H, Schinzel A. Kotzot D, et al. Among authors: schinzel a. J Med Genet. 2000 Apr;37(4):281-6. doi: 10.1136/jmg.37.4.281. J Med Genet. 2000. PMID: 10745046 Free PMC article.
Telomeres: a diagnosis at the end of the chromosomes.
De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. De Vries BB, et al. Among authors: schinzel a. J Med Genet. 2003 Jun;40(6):385-98. doi: 10.1136/jmg.40.6.385. J Med Genet. 2003. PMID: 12807958 Free PMC article. Review.
413 results