Literature DB >> 22942099

De novo inv(17)(p11.2q21.3) in an intellectually disabled girl: appraisal of 21 inv(17) constitutional instances.

Miriam Partida-Pérez1, María G Domínguez, Vivian Alejandra Neira, Luis E Figuera, Horacio Rivera.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 22942099     DOI： 10.1007/s12041-012-0172-4

Source DB:  PubMed          Journal:  J Genet        ISSN： 0022-1333            Impact factor:   1.166


× No keyword cloud information.
  18 in total

1.  A study of reciprocal translocations and inversions detected by light microscopy with special reference to origin, segregation, and recurrent abnormalities.

Authors:  Sheila Youings; Katrina Ellis; Sarah Ennis; John Barber; Patricia Jacobs
Journal:  Am J Med Genet A       Date:  2004-04-01       Impact factor: 2.802

2.  First case of a neocentromere formation in an otherwise normal chromosome 7.

Authors:  T Liehr; N Kosyakova; A Weise; M Ziegler; G Raabe-Meyer
Journal:  Cytogenet Genome Res       Date:  2009-12-23       Impact factor: 1.636

3.  Cryptic pericentric inversion of chromosome 17 detected by fluorescence in situ hybridization study in familial Miller-Dieker syndrome.

Authors:  Y Yokoyama; K Narahara; M Teraoka; K Koyama; Y Seino; S Yagi; T Konishi; T Miyawaki
Journal:  Am J Med Genet       Date:  1997-08-08

4.  Segregation analysis of balanced pericentric inversions in pedigree data.

Authors:  S L Sherman; L Iselius; P Gallano; K Buckton; S Collyer; R DeMey; U Kristoffersson; J Lindsten; M Mikkelsen; N E Morton
Journal:  Clin Genet       Date:  1986-08       Impact factor: 4.438

Review 5.  Pericentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français.

Authors: 
Journal:  Ann Genet       Date:  1986

6.  Prenatal diagnosis of pericentric inversion of chromosome No. 17 in a twin pregnancy.

Authors:  G Kassam; A T Chen; M F Goldberg; S Trusler; G P Oakley
Journal:  Prenat Diagn       Date:  1984 May-Jun       Impact factor: 3.050

7.  A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses.

Authors:  A Boué; P Gallano
Journal:  Prenat Diagn       Date:  1984       Impact factor: 3.050

8.  Comparison of G-, Q-, and R-banding in 28 cases of chromosomal abnormalities.

Authors:  R S Verma; D C Peakman; A Robinson; H A Lubs
Journal:  Cytogenet Cell Genet       Date:  1976

Review 9.  Novel microdeletion syndromes detected by chromosome microarrays.

Authors:  Anne M Slavotinek
Journal:  Hum Genet       Date:  2008-05-30       Impact factor: 4.132

10.  Familial Miller-Dieker syndrome associated with pericentric inversion of chromosome 17.

Authors:  F Greenberg; R F Stratton; L H Lockhart; F F Elder; W B Dobyns; D H Ledbetter
Journal:  Am J Med Genet       Date:  1986-04
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.