Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

410 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
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.
410 results
You have reached the last page of results. A maximum of 10,000 results are available.
Jump to page