Found: 26
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X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.
- Published in:
- Clinical Genetics, 1994, v. 45, n. 3, p. 145, doi. 10.1111/j.1399-0004.1994.tb04012.x
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- Publication type:
- Article
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
- Published in:
- Nature Genetics, 2003, v. 35, n. 4, p. 313, doi. 10.1038/ng1264
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- Publication type:
- Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 247, doi. 10.1038/80002
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- Publication type:
- Article
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
- Published in:
- Nature Genetics, 2000, v. 24, n. 2, p. 167, doi. 10.1038/72829
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- Publication type:
- Article
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
- Published in:
- Nature Genetics, 1999, v. 23, n. 1, p. 25, doi. 10.1038/12623
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- Publication type:
- Article
Fetal fibrochondrogenesis at 26 weeks' gestation.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 9, p. 806, doi. 10.1002/pd.423
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- Publication type:
- Article
Subtle familial unbalanced translocation t(8;11)(p23.2;p15.5) in two fetuses with Beckwith-Wiedemann features.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 511, doi. 10.1002/1097-0223(200006)20:6<511::AID-PD849>3.0.CO;2-B
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- Publication type:
- Article
Prenatal ultrasonographic diagnosis of the popliteal pterygium syndrome.
- Published in:
- Prenatal Diagnosis, 2000, v. 20, n. 6, p. 501, doi. 10.1002/1097-0223(200006)20:6<501::AID-PD862>3.0.CO;2-X
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
- Published in:
- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
- Published in:
- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Publication type:
- Article
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 375, doi. 10.1038/sj.ejhg.5201758
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- Publication type:
- Article
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.
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- European Journal of Human Genetics, 2007, v. 15, n. 1, p. 68, doi. 10.1038/sj.ejhg.5201714
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- Publication type:
- Article
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
- Published in:
- 2005
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- Publication type:
- Letter
Skewed X chromosome inactivation in carriers is not a constant finding in FG syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 352, doi. 10.1038/sj.ejhg.5200959
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- Publication type:
- Article
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 9, p. 516, doi. 10.1038/sj.ejhg.5200846
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- Publication type:
- Article
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 552, doi. 10.1038/sj.ejhg.5200488
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- Publication type:
- Article
Systematic analysis of X-inactivation in 19 XLMR families: extremely skewed profiles in carriers in three families.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 4, p. 253, doi. 10.1038/sj.ejhg.5200437
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- Publication type:
- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
- Published in:
- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Publication type:
- Article
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 8, p. 981, doi. 10.1093/hmg/11.8.981
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation
- Published in:
- 2003
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- Publication type:
- journal article
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
- Published in:
- Nature, 1998, v. 392, n. 6679, p. 923, doi. 10.1038/31940
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- Publication type:
- Article
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitor.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1311, doi. 10.1093/hmg/7.8.1311
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- Publication type:
- Article
Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 30, doi. 10.1186/1471-2350-11-30
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- Publication type:
- Article