Literature DB >> 11288708

Segmental uniparental isodisomy (UPD) for 2p16 without clinical symptoms: implications for UPD and other genetic studies of chromosome 2.

C A Stratakis, S E Taymans, D Schteingart, B R Haddad.   

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Year:  2001        PMID： 11288708      PMCID： PMC1734803          DOI： 10.1136/jmg.38.2.106

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


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  5 in total

Review 1.  Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.

Authors:  H Carmichael; Y Shen; T T Nguyen; J N Hirschhorn; A Dauber
Journal:  Clin Genet       Date:  2012-12-20       Impact factor: 4.438

Review 2.  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

3.  Obesity and developmental delay in a patient with uniparental disomy of chromosome 2.

Authors:  T Yu; J Li; N Li; R Liu; Y Ding; G Chang; Y Chen; Y Shen; X Wang; J Wang
Journal:  Int J Obes (Lond)       Date:  2016-09-22       Impact factor: 5.095

Review 4.  Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Authors:  Irene Ferrer-Bolufer; Jaime Dalmau; Ramiro Quiroga; Silvestre Oltra; Carmen Orellana; Sandra Monfort; Mónica Roselló; Alberto De La Osa; Francisco Martinez
Journal:  J Inherit Metab Dis       Date:  2009-12-23       Impact factor: 4.982

5.  Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2.

Authors:  Andrzej Doniec; Wojciech Łuczak; Maria Wróbel; Miłosz Januła; Andrzej Ossowski; Paweł Grzmil; Tomasz Kupiec
Journal:  Genes (Basel)       Date:  2021-01-04       Impact factor: 4.096
  5 in total

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