(Q34069962)

30 July 2017

1 reference

title

Syndromic XLMR genes (MRXS): update 2000. (English)

1 reference

30 July 2017

Hamel BC

1

1 reference

PubMed ID

11050617

30 July 2017

Chiurazzi P

series ordinal

2

1 reference

PubMed ID

11050617

30 July 2017

Lubs HA

series ordinal

3

1 reference

30 July 2017

1 October 2000

1 reference

American Journal of Medical Genetics Part A

30 July 2017

1 reference

30 July 2017

94

1 reference

30 July 2017

5

1 reference

30 July 2017

361-363

1 reference

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

30 July 2017

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Confirmation of linkage in X-linked infantile spasms (West syndrome) and refinement of the disease locus to Xp21.3-Xp22.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

X-linked mental retardation syndrome with characteristic "coarse" facial appearance, brachydactyly, and short stature maps to proximal Xq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

X-linked intellectual handicap and precocious puberty with obesity in carrier females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

21 January 2018

XLMR genes: update 1996.

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Brain anomalies, retardation of mentality and growth, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia (BRESEK/BRESHECK): ne

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Nance-Horan syndrome: linkage analysis in 4 families refines localization in Xp22.31-p22.13 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Carpenter-Waziri syndrome results from a mutation in XNP

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

A new X-linked mental retardation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

21 January 2018

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

X-linked recessive microencephaly, microphthalmia with corneal opacities, spastic quadriplegia, hypospadias and cryptorchidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001023%2994%3A5%3C361%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

10.1002/1096-8628(20001023)94:5<361::AID-AJMG2>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference

PubMed ID

11050617