Literature DB >> 10465116

Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2).

R A Martin1, D W Sabol, P K Rogan.   

Abstract

Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.

Entities:  

Mesh：

Year:  1999        PMID： 10465116      PMCID： PMC1762978     

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


  12 in total

1.  The size distribution of homozygous segments in the human genome.

Authors:  A G Clark
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

Authors:  Thomas Eggermann; Klaus Zerres
Journal:  Mol Diagn       Date:  2003

3.  Paternal uniparental disomy of chromosome 14 and unique exchange of chromosome 7 in cases of spontaneous abortion.

Authors:  Sami Tsukishiro; Qing Ying Li; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2005-03-04       Impact factor: 3.172

4.  Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients.

Authors:  T Eggermann; S Mergenthaler; K Eggermann; A Albers; K Linnemann; C Fusch; M B Ranke; H A Wollmann
Journal:  J Med Genet       Date:  2001-02       Impact factor: 6.318

5.  Localization of multiple melanoma tumor-suppressor genes on chromosome 11 by use of homozygosity mapping-of-deletions analysis.

Authors:  E K Goldberg; J M Glendening; Z Karanjawala; A Sridhar; G J Walker; N K Hayward; A J Rice; D Kurera; Y Tebha; J W Fountain
Journal:  Am J Hum Genet       Date:  2000-07-29       Impact factor: 11.025

Review 6.  Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.

Authors:  D Kotzot
Journal:  J Med Genet       Date:  2001-08       Impact factor: 6.318

7.  A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region.

Authors:  K Hannula; M Lipsanen-Nyman; T Kontiokari; J Kere
Journal:  Am J Hum Genet       Date:  2000-12-08       Impact factor: 11.025

Review 8.  Current status of human chromosome 14.

Authors:  D Kamnasaran; D W Cox
Journal:  J Med Genet       Date:  2002-02       Impact factor: 6.318

9.  Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

Authors:  Sabine Heger; Claudio Mastronardi; Gregory A Dissen; Alejandro Lomniczi; Ricardo Cabrera; Christian L Roth; Heike Jung; Francesco Galimi; Wolfgang Sippell; Sergio R Ojeda
Journal:  J Clin Invest       Date:  2007-08       Impact factor: 14.808

10.  Clinical significance and mechanisms associated with segmental UPD.

Authors:  Peter R Papenhausen; Carla A Kelly; Samuel Harris; Samantha Caldwell; Stuart Schwartz; Andrea Penton
Journal:  Mol Cytogenet       Date:  2021-07-20       Impact factor: 2.009
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