Literature DB >> 22173889

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.

T Gardeitchik, N de Leeuw, L Nijtmans, P Jira, T Kozicz, M Czako, I van de Burgt, E Morava.   

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Year:  2011        PMID： 22173889     DOI： 10.1002/ajmg.a.34410

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Early-lethal Costello syndrome due to rare HRAS Tandem Base substitution (c.35_36GC>AA; p.G12E)-associated pulmonary vascular disease.

Authors:  K Nicole Weaver; Dehua Wang; James Cnota; Nicholas Gardner; Deborah Stabley; Katia Sol-Church; Karen W Gripp; David P Witte; Kevin E Bove; Robert J Hopkin
Journal:  Pediatr Dev Pathol       Date:  2014-08-18

2.  Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.

Authors:  Karen W Gripp; Katherine M Robbins; Brandon S Sheffield; Anna F Lee; Millan S Patel; Stephen Yip; Daniel Doyle; Deborah Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2015-11-17       Impact factor: 2.802

3.  Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Authors:  Thatjana Gardeitchik; Miski Mohamed; Björn Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki-Joong Kim; Bing C Lim; Johannes Häberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leão; Riikka Keski-Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246
  3 in total

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