Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

2007 ◽  
Vol 146A (2) ◽  
pp. 225-232 ◽  
Author(s):  
William T. Gibson ◽  
Chansonette Harvard ◽  
Ying Qiao ◽  
Martin J. Somerville ◽  
M.E. Suzanne Lewis ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Alpha Thalassemia

scholarly journals Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein

PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e113182 ◽  
Author(s):  
Brenda López-Falcón ◽  
Silvia Meyer-Nava ◽  
Benjamín Hernández-Rodríguez ◽  
Adam Campos ◽  
Daniel Montero ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Amino Terminus ◽  
Alpha Thalassemia ◽  
Vertebrate Protein

scholarly journals Correction: Characterization of the Drosophila Group Ortholog to the Amino-Terminus of the Alpha-Thalassemia and Mental Retardation X-Linked (ATRX) Vertebrate Protein

PLoS ONE ◽  
2016 ◽  
Vol 11 (2) ◽  
pp. e0149367
Author(s):  
Brenda López-Falcón ◽  
Silvia Meyer-Nava ◽  
Benjamín Hernández-Rodríguez ◽  
Adam Campos ◽  
Daniel Montero ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Amino Terminus ◽  
Alpha Thalassemia ◽  
Vertebrate Protein

Clinical and molecular cytogenetic characterization of two cases of inverted duplication deletion 8p

2020 ◽  
pp. 41-42
Author(s):  
Д.А. Юрченко ◽  
М.Е. Миньженкова ◽  
Е.Л. Дадали ◽  
Н.В. Шилова
Keyword(s):  
Mental Retardation ◽  
Congenital Heart ◽  
Heart Defects ◽  
Clinical Manifestations ◽  
Formation Mechanisms ◽  
Agenesis Of Corpus Callosum ◽  
Molecular Cytogenetic ◽  
Inverted Duplication ◽  
Cytogenetic Characterization

Синдром инвертированной дупликации короткого плеча хромосомы 8 со смежной терминальной делециенй (inv dup del(8p), ORPHA 96092) - редкая хромосомная аномалия (ХА) с частотой 1/10000-1/30000 живорожденных. В статье представлены клинические и молекулярно-цитогенетические характеристики двух неродственных пациентов с синдромом inv dup del(8p) и уточнены механизмы формирования хромосомного дисбаланса. Inverted duplication deletion 8p syndrome (inv dup del(8p), ORPHA 96092) is a rare chromosomal abnormality with a frequency of 1:10,000 - 30,000 newborns. Clinical manifestations of this syndrome include mental retardation, facial anomalies, hypoplasia/agenesis of corpus callosum, scoliosis and/or kyphosis, hypotonia, congenital heart defects. The article presents the clinical and molecular cytogenetic characteristics of two patients with inv dup del (8p) syndrome and clarifies the formation mechanisms.

scholarly journals Case Report: Characterization of a Novel NONO Intronic Mutation in a Fetus With X-Linked Syndromic Mental Retardation-34

2020 ◽  
Vol 11 ◽  
Author(s):  
Hairui Sun ◽  
Lu Han ◽  
Xiaoshan Zhang ◽  
Xiaoyan Hao ◽  
Xiaoxue Zhou ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Intronic Mutation

Characterization of an interstitial deletion 6q13–q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

2009 ◽  
Vol 52 (1) ◽  
pp. 49-52 ◽  
Author(s):  
James Lespinasse ◽  
Stefania Gimelli ◽  
Frédérique Béna ◽  
Stylianos E. Antonarakis ◽  
François Ansermet ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Interstitial Deletion ◽  
Language Delay ◽  
Mild Mental Retardation

Characterization of new splice variants of PAK3 and their implication in mental retardation

2006 ◽  
Vol 99 (2-3) ◽  
pp. 1
Author(s):  
Patricia Kreis ◽  
Véronique Rousseau ◽  
Olivier Goupille ◽  
Nathalie Morin ◽  
Jean-Vianney Barnier
Keyword(s):  
Mental Retardation ◽  
Splice Variants
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