Alpha Thalassemia X-linked Mental Retardation Syndrome

Anti-ATRX Antibody [CL0537] - Abcam
Involvement in disease Defects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]. disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia. ... Fetch Doc

Decreased Expression Of GRAF1/OPHN-1-L In The X-linked alpha ...
RESEARCH ARTICLE Open Access Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome Vincenza Barresi1,2, Angela Ragusa8, Marco Fichera7, Nicolò Musso1, Lucia Castiglia7, Giancarlo Rappazzo4, ... Return Document

Alpha Thalassemia Disorders - InTech
Analysis of the alpha thalassemia/mental retardation Pembrey ME: X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS ). Nat Genet ... Return Doc

Anti-ATRX Antibody Ab84462 - Abcam.com
Involvement in disease Defects in ATRX are the cause of alpha-thalassemia mental retardation syndrome X-linked non-deletion type (ATRX) [MIM:301040]. disorder, alpha-thalassemia occurs as an acquired abnormality in association with a multilineage myelodysplasia. ... Return Document

ATR-X syndrome In Two Siblings With A Novel Mutation (c.6718C ...
Thalassaemia X-linked mental retardation syndrome results from an abnormality in ATR-X syndrome is an X-linked mental retardation syndrome characterized by mental retardation, alpha thalassaemia and distinct facial features which X-linked alpha thalassemia/mental retardation ... Access Doc

Alpha-thalassemia mental retardation syndrome (Medical ...
Symptoms, risk factors and treatments of Alpha-thalassemia mental retardation syndrome (Medical Condition) Alpha-thalassemia mental retardation syndrome, also called alpha-thalassemia X-linked mental retardation, nondeletion type or ATR-X syndrome, is a condition caused by a mutated ... View Video

Mar-Apr, 2007 PC2 Mailbox Page 25 Disability Awareness Begins ...
Disability Awareness Begins With You: ATR-X SYNDROME Mar-Apr, 2007 PC2 Mailbox Page 25 Alpha thalassemia X-linked mental retardation (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. Synonyms of Alpha Thalassemia X-linked Mental Retardation Syndrome ... View This Document

X-LINKED INTELLECTUAL DISABILITY
X-LINKED INTELLECTUAL DISABILITY PICCIONE MARIA, VINCENZO ANTONA, syndrome X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a rare, causes of X-linked mental retardation. Rev Neurol. 2006 Jan 7; 42Suppl 1: ... Read Content

alpha-thalassemia/mental retardation syndrome - Springer
Hemoglobin H-mental retardation HMRD contiguous genes X-linked recessive Mental retardation associated with alpha-thalassemia in male. Dysmorphic face, seizures, alpha-thalassemia/mental retardation syndrome Page 2 of 3. ... View This Document

MASA syndrome - Wikipedia, The Free Encyclopedia
MASA syndrome; X-linked alpha thalassemia mental retardation syndrome; Siderius X-linked mental retardation syndrome; Eye disorders: Color blindness (red and green, but not blue) Ocular albinism ; Norrie disease; Choroideremia; ... Read Article

Alpha-Thalassemia X-linked Mental Retardation Syndrome
Alpha-Thalassemia X-linked Mental Retardation Syndrome Alpha-thalassemia X-linked mental retardation (ATRX) syndrome, one form of X-linked mental ... Retrieve Content

Spectrum Of Renal Abnormalities In ATR-X syndrome: A Case ...
Spectrum of renal abnormalities in ATR-X syndrome: a case report of 2 twins Chimenz R, Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? Am J Med Genet 1995, 55:300-301. 3. X-linked alpha-thalassemia/ mental retardation syndrome (ATR-X) . ... Retrieve Here

The First Case Of X-linked Alpha-thalassemia/Mental ...
The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea The X-Linked α-thalassemia mental retardation syndrome is a serious recessive disorder resulting from mutations in the ATRX gene, ... Doc Viewer

AlphaThalassemia/MentalRetardationSyndromeX-linked ...
AlphaThalassemia/MentalRetardationSyndromeX-linked GeneProductATRXIsRequiredforProperReplicationRestart Alpha thalassemia/mental retardation syndrome X-linked and genomic instability, including alpha thalassemia/mental retardation syndrome X-linked ... Retrieve Content

A New X-Linked Mental Retardation Syndrome With Diplegia And ...
ATR-X, X-linked alpha-thalassemia/mental retardation; JARID1C, Jumonji AT-rich interactive domain 1C; L1CAM, L1 cell adhesion molecule; is a distinct X linked mental retardation syndrome mapping to Xp22. J Med Genet 1997;34:535–540. 34 Sutherland GR, Gedeon AK, Haan EA, Woodroffe ... Read Full Source

Angelman syndrome - Orpha
Angelman syndrome (AS) is a neurogenetic disorder X-linked alpha thalassemia-mental retardation syndrome, with chromosomal rearrangment, DeSouza M, Cunningham C et al. X-linked mental retardation with non-deletion a thalassemia (ATR-X): Further delineation of the ... Access This Document

Alpha thalassemia/mental retardation syndrome X-linked Gene ...
! 1! Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress ... Document Retrieval

Ссылки. OMIM entries on Alpha-Thalassemia X-Linked Mental Retardation Syndrome; OMIM 301040; Robert J. Gorlin, Meyer Michael Cohen, Raoul C. M. Hennekam. ... Read Article

X-linked A-Thalassemia/Mental Retardation (ATR-X) Syndrome ...
X-linked a-Thalassemia/Mental Retardation (ATR-X) Miles JH, Carpenter NJ (1991) Unique X-linked mental retardation syndrome with fingertip arches and con- turesandmolecularanalysisofthea-thalassemia/mental retardationsyndromes.I. ... Read More

Alpha thalassemia mental retardation X-linked Acquired alpha ...
Alpha thalassemia mental retardation X-linked Acquired alpha-thalassemia myelodysplastic syndrome ... Return Doc

2 3 Alpha-Thalassämie- Retardierungs-Syndrom
Alpha-thalassemia X-linked mental retardation syndrome (ATRX). ATRX syndrome in two boys with mental retardation and muscular hypotonia Abstract Alpha-thalassemia X-linked mental retarda-tion (ATRX, MIM#301040) syndrome is associ- ... Fetch Document