Literature DB >> 9311755

Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?

L G Shaffer, C McCaskill, C A Egli, J C Baker, K M Johnston.   

Abstract

Mesh：

Year:  1997        PMID： 9311755      PMCID： PMC1715890          DOI： 10.1016/S0002-9297(07)64076-2

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  3 in total

1.  Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q)

Authors:  F Bernasconi; A Karagüzel; F Celep; I Keser; G Lüleci; F Dutly; A A Schinzel
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

2.  Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.

Authors:  A L Webb; S Sturgiss; P Warwicker; S C Robson; J A Goodship; J Wolstenholme
Journal:  Prenat Diagn       Date:  1996-10       Impact factor: 3.050

3.  Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture.

Authors:  K Harrison; K Eisenger; K Anyane-Yeboa; S Brown
Journal:  Am J Med Genet       Date:  1995-08-28
  3 in total
  7 in total

Review 1.  Centric fission--simple and complex mechanisms.

Authors:  Jo Perry; Howard R Slater; K H Andy Choo
Journal:  Chromosome Res       Date:  2004       Impact factor: 5.239

2.  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

3.  Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Authors:  Sibel Kantarci; Nicola K Ragge; N Simon Thomas; David O Robinson; Kristin M Noonan; Meaghan K Russell; Dian Donnai; F Lucy Raymond; Christopher A Walsh; Patricia K Donahoe; Barbara R Pober
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

4.  Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Authors:  Debra A Thompson; Christina L McHenry; Yun Li; Julia E Richards; Mohammad I Othman; Eberhard Schwinger; Douglas Vollrath; Samuel G Jacobson; Andreas Gal
Journal:  Am J Hum Genet       Date:  2001-11-27       Impact factor: 11.025

Review 5.  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

6.  Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes.

Authors:  Aaron Hamvas; Lawrence M Nogee; Daniel J Wegner; Kelcey Depass; John Christodoulou; Bruce Bennetts; Leon R McQuade; Peter H Gray; Robin R Deterding; Travis R Carroll; Anja Kammesheidt; Laura M Kasch; Shashikant Kulkarni; F Sessions Cole
Journal:  J Pediatr       Date:  2009-08-03       Impact factor: 4.406

7.  Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.

Authors:  Yuko Kondo; Sami Tsukishiro; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2004-03-02       Impact factor: 3.172
  7 in total

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