Literature DB >> 11768394

Maternal uniparental isodisomy 11q13qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13qter.

D Kotzot, B Röthlisberger, M Riegel, A Schinzel.   

Abstract

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Year:  2001        PMID： 11768394      PMCID： PMC1734778          DOI： 10.1136/jmg.38.12.876

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

Authors:  Alina Teresa Midro; Barbara Panasiuk; Beata Stasiewicz-Jarocka; Marta Olszewska; Ewa Wiland; Marta Myśliwiec; Maciej Kurpisz; Lisa G Shaffer; Marzena Gajecka
Journal:  J Hum Genet       Date:  2014-10-16       Impact factor: 3.172

2.  Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.

Authors:  J L Seal; M C Gornick; N Gogtay; P Shaw; D K Greenstein; M Coffey; P A Gochman; T Stromberg; Z Chen; B Merriman; S F Nelson; J Brooks; S Arepalli; F Wavrant-De Vrièze; J Hardy; J L Rapoport; A M Addington
Journal:  J Med Genet       Date:  2006-06-08       Impact factor: 6.318

Review 3.  Mosaicism for structural non-centromeric autosomal rearrangements in disease-defined carriers: sex differences in the rearrangements profile and maternal age distributions.

Authors:  Natalia V Kovaleva; Philip D Cotter
Journal:  Mol Cytogenet       Date:  2017-05-19       Impact factor: 2.009
  3 in total

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