Literature DB >> 3189413

Ring chromosome 11 and café-au-lait spots.

K Fagan1, G K Suthers, G Hardacre.   

Abstract

We report on the segregation of a cytogenetically non-deleted ring chromosome 11 and café-au-lait spots in a family. This appears to be the largest inherited ring autosome yet reported.

Mesh：

Year:  1988        PMID： 3189413     DOI： 10.1002/ajmg.1320300406

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

1.  Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation.

Authors:  C P Koiffmann; A Diament; D H de Souza; A Wajntal
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

Review 2.  Ring chromosomes: from formation to clinical potential.

Authors:  Inna E Pristyazhnyuk; Aleksei G Menzorov
Journal:  Protoplasma       Date:  2017-09-12       Impact factor: 3.356

3.  Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

Authors:  K D MacDermot; E Jack; A Cooke; C Turleau; R H Lindenbaum; J Pearson; C Patel; P M Barnes; J Portch; M D Crawfurd
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

4.  Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Authors:  Alexandra Galvão Gomes; Carlos H Paiva Grangeiro; Luiz R Silva; Flávia G Oliveira-Gennaro; Ciro S Pereira; Tatiana M Joaquim; Rodrigo A Panepucci; Jeremy A Squire; Lucia Martelli
Journal:  Mol Syndromol       Date:  2016-11-17

5.  Ring chromosome 12 and severe oligospermia: a case report.

Authors:  J Ryan Martin; Anne Wold; Hugh S Taylor
Journal:  Fertil Steril       Date:  2007-09-19       Impact factor: 7.329

Review 6.  Inherited ring chromosomes: an analysis of published cases.

Authors:  G Kosztolányi; K Méhes; E B Hook
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

7.  Pathogenesis of vestibular schwannoma in ring chromosome 22.

Authors:  Ellen Denayer; Hilde Brems; Paul de Cock; Gareth D Evans; Frank Van Calenbergh; Naomi Bowers; Raf Sciot; Maria Debiec-Rychter; Joris V Vermeesch; Jean-Pierre Fryns; Eric Legius
Journal:  BMC Med Genet       Date:  2009-09-22       Impact factor: 2.103

8.  De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Authors:  Ying Peng; Ruiyu Ma; Yingjie Zhou; Yan Xia; Juan Wen; Yanghui Zhang; Ruolan Guo; Haoxian Li; Qian Pan; Rui Zhang; Chengyuan Tang; Desheng Liang; Lingqian Wu
Journal:  Mol Cytogenet       Date:  2015-11-09       Impact factor: 2.009

9.  Endocrine abnormalities in ring chromosome 11: a case report and review of the literature.

Authors:  Renata Lange; Caoê Von Linsingen; Fernanda Mata; Aline Barbosa Moraes; Mariana Arruda; Leonardo Vieira Neto
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2015-10-15
  9 in total

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