(Q34225912)

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XLMR genes: update 2000.

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scholarly article

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Europe PubMed Central

31 July 2017

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Europe PubMed Central

XLMR genes: update 2000. (English)

1 reference

Europe PubMed Central

31 July 2017

author name string

Chiurazzi P

1

1 reference

Europe PubMed Central

31 July 2017

Hamel BC

2

1 reference

Europe PubMed Central

31 July 2017

Neri G

3

1 reference

Europe PubMed Central

31 July 2017

publication date

1 February 2001

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Europe PubMed Central

31 July 2017

European Journal of Human Genetics

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Europe PubMed Central

31 July 2017

9

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Europe PubMed Central

31 July 2017

71-81

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Europe PubMed Central

31 July 2017

2

1 reference

Europe PubMed Central

31 July 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200603

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Genetics of mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonspecific X-linked mental retardation II: the frequency in British Columbia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Prevalence of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

XLMR genes: update 1990.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

XLMR genes: Update 1998

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Syndromic XLMR genes (MRXS): update 2000.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Breakthroughs in molecular and cellular mechanisms underlying X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Carpenter-Waziri syndrome results from a mutation in XNP

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Mind the GAP, Rho, Rab and GDI.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A new X-linked mental retardation syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonspecific X-linked mental retardation with macrocephaly and obesity: A further family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between xq21.33 and Xq23.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A new X-linked multiple congenital anomalies/mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

The gene for cherubism maps to chromosome 4p16.3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

XLMR syndrome characterized by multiple respiratory infections, hypertelorism, severe CNS deterioration and early death localizes to distal Xq28.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A unique form of mental retardation with a distinctive phenotype maps to Xq26-q27.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Arch fingerprints, hypotonia, and areflexia associated with X linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan].

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

New X-linked syndrome of mental retardation, short stature, and hypertelorism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Mental retardation, acromegalic face, and megalotestes in two half-brothers: a specific form of X-linked mental retardation without fra(X) (q)?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked hypogonadism, gynecomastia, mental retardation, short stature, and obesity--a new syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Spastic paraplegia with iron deposits in the basal ganglia: a new X-linked mental retardation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel syndromic form of X-linked complicated spastic paraplegia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence of a third locus in X-linked recessive spastic paraplegia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

New X-linked syndrome with apraxia, ataxia, and mental deficiency: Clinical, cytogenetic and neuropsychological studies in two Danish families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200603

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200603

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release_lipo4hxnl5h2xmrch5cgz3q2ru

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https://api.fatcat.wiki/v0/release/lipo4hxnl5h2xmrch5cgz3q2ru

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

31 July 2017

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