Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
Juberg-Marsidi syndrome
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Carpenter-Waziri syndrome results from a mutation in XNP.
|
10398237 |
1999 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern.
|
31746429 |
2020 |
Juberg-Marsidi syndrome
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
XNP mutation in a large family with Juberg-Marsidi syndrome.
|
8630485 |
1996 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
XNP mutation in a large family with Juberg-Marsidi syndrome.
|
8630485 |
1996 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.
|
15565397 |
2005 |
Juberg-Marsidi syndrome
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
|
10632111 |
2000 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Alpha thalassaemia-mental retardation, X linked.
|
16722615 |
2006 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
|
24805811 |
2015 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Altered visual function and interneuron survival in Atrx knockout mice: inference for the human syndrome.
|
19088125 |
2009 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Asplenia in ATR-X syndrome: a second report.
|
16222662 |
2005 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern.
|
16955409 |
2006 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
|
10204841 |
1999 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
First case of dizygous twins with X-linked alpha-thalassemia/mental retardation syndrome showing wide clinical variability.
|
20500465 |
2010 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.
|
9598720 |
1998 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
Juberg-Marsidi syndrome
|
0.720 |
GermlineCausalMutation
|
disease |
ORPHANET |
Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.
|
11050622 |
2000 |
Juberg-Marsidi syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
|
10751095 |
2000 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Interaction between chromatin proteins MECP2 and ATRX is disrupted by mutations that cause inherited mental retardation.
|
17296936 |
2007 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
|
7697714 |
1995 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
CLINGEN |
Reduced expression of the ATRX gene, a chromatin-remodeling factor, causes hippocampal dysfunction in mice.
|
20865721 |
2011 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
BEFREE |
Since the identification of the ATRX gene (synonyms XNP, XH2) in 1995, it has been shown to be the disease gene for numerous forms of syndromal X-linked mental retardation [X-linked alpha thalassemia/mental retardation (ATR-X) syndrome, Carpenter syndrome, Juberg-Marsidi syndrome, Smith-Fineman-Myers syndrome, X-linked mental retardation with spastic paraplegia].
|
11449489 |
2000 |
Juberg-Marsidi syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Smith-Fineman-Myers syndrome in apparently monozygotic twins.
|
9788563 |
1998 |