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X-linked disorders with cerebellar dysgenesisCytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardationUniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cellsThe presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.Role of miR-224 in hepatocellular carcinoma: a tool for possible therapeutic intervention?Perspectives in Pediatric Pathology, Chapter 16. Klinefelter Syndrome and Other Anomalies in X and Y Chromosomes. Clinical and Pathological Entities.Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?A Rare Variant of Turner Syndrome in Four Sequential Generations: Effect of the Interplay of Growth Hormone Treatment and Estrogens on Body Proportion.X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Infectious and immunologic phenotype of MECP2 duplication syndrome.De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.MECP2 duplications in six patients with complex sex chromosome rearrangementsAn unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient.Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 20 February 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Distal Xq duplication and functional Xq disomy.
@en
Distal Xq duplication and functional Xq disomy.
@nl
type
label
Distal Xq duplication and functional Xq disomy.
@en
Distal Xq duplication and functional Xq disomy.
@nl
prefLabel
Distal Xq duplication and functional Xq disomy.
@en
Distal Xq duplication and functional Xq disomy.
@nl
P2860
P921
P356
P1476
Distal Xq duplication and functional Xq disomy
@en
P2093
Catherine Turleau
P2860
P2888
P356
10.1186/1750-1172-4-4
P5008
P577
2009-02-20T00:00:00Z
P5875
P6179
1008361944