Literature DB >> 10213052

Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype.

M J Berends, R Hordijk, H Scheffer, J C Oosterwijk, D J Halley, N Sorgedrager.   

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Year:  1999        PMID： 10213052     DOI： 10.1002/(sici)1096-8628(19990507)84:1<76::aid-ajmg16>3.0.co;2-f

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


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  15 in total

1.  Growth parameters in maternal uniparental disomy 7 and 14.

Authors:  Dieter Kotzot
Journal:  Eur J Pediatr       Date:  2007-01-04       Impact factor: 3.183

2.  Delta-like 1/fetal antigen-1 (Dlk1/FA1) is a novel regulator of chondrogenic cell differentiation via inhibition of the Akt kinase-dependent pathway.

Authors:  Li Chen; Diyako Qanie; Abbas Jafari; Hanna Taipaleenmaki; Charlotte H Jensen; Anna-Marja Säämänen; Maria Luisa Nueda Sanz; Jorge Laborda; Basem M Abdallah; Moustapha Kassem
Journal:  J Biol Chem       Date:  2011-07-01       Impact factor: 5.157

3.  Estrogen inhibits Dlk1/FA1 production: a potential mechanism for estrogen effects on bone turnover.

Authors:  Basem M Abdallah; Anne-Christine Bay-Jensen; Bhuma Srinivasan; Nadine C Tabassi; Patrick Garnero; Jean-Marie Delaissé; Sundeep Khosla; Moustapha Kassem
Journal:  J Bone Miner Res       Date:  2011-10       Impact factor: 6.741

Review 4.  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

5.  Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14.

Authors:  Melita D Irving; Karin Buiting; Deniz Kanber; Celia Donaghue; Reiner Schulz; Amaka Offiah; Shehla N Mohammed; Rebecca J Oakey
Journal:  Am J Med Genet A       Date:  2010-08       Impact factor: 2.802

Review 6.  Genomic imprinting of the type 3 thyroid hormone deiodinase gene: regulation and developmental implications.

Authors:  Marika Charalambous; Arturo Hernandez
Journal:  Biochim Biophys Acta       Date:  2012-04-04

7.  Isolation and differentiation of chondrocytic cells derived from human embryonic stem cells using dlk1/FA1 as a novel surface marker.

Authors:  Linda Harkness; Hanna Taipaleenmaki; Amer Mahmood; Ulrik Frandsen; Anna-Marja Saamanen; Moustapha Kassem; Basem M Abdallah
Journal:  Stem Cell Rev Rep       Date:  2009-12       Impact factor: 5.739

8.  Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity.

Authors:  Yang Soo Moon; Cynthia M Smas; Kichoon Lee; Josep A Villena; Kee-Hong Kim; Eun Jun Yun; Hei Sook Sul
Journal:  Mol Cell Biol       Date:  2002-08       Impact factor: 4.272

Review 9.  Genomic imprinting disorders in humans: a mini-review.

Authors:  Merlin G Butler
Journal:  J Assist Reprod Genet       Date:  2009-10-21       Impact factor: 3.412

10.  FA1 Induces Pro-Inflammatory and Anti-Adipogenic Pathways/Markers in Human Myotubes Established from Lean, Obese, and Type 2 Diabetic Subjects but Not Insulin Resistance.

Authors:  Basem M Abdallah; Henning Beck-Nielsen; Michael Gaster
Journal:  Front Endocrinol (Lausanne)       Date:  2013-04-05       Impact factor: 5.555
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