(Q33205129)

23 July 2017

1 reference

title

X-linked mental retardation (XLMR): from clinical conditions to cloned genes (English)

1 reference

23 July 2017

Pietro Chiurazzi

1

1 reference

PubMed ID

15270552

23 July 2017

Elisabetta Tabolacci

series ordinal

2

1 reference

PubMed ID

15270552

23 July 2017

Giovanni Neri

series ordinal

3

1 reference

23 July 2017

1 January 2004

1 reference

Critical Reviews in Clinical Laboratory Sciences

23 July 2017

1 reference

23 July 2017

41

1 reference

23 July 2017

117-158

1 reference

23 July 2017

2

1 reference

Genetics of mental retardation

23 July 2017

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

A high density of X-linked genes for general cognitive ability: a run-away process shaping human evolution?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Genetic syndromes among individuals with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

21 January 2018

XLMR genes: update 1990.

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

21 January 2018

XLMR genes: update 2000.

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Human diseases with underlying defects in chromatin structure and modification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

X-linked non-specific mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Rho proteins, mental retardation and the cellular basis of cognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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/10.1080%2F10408360490443013

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

XNP mutation in a large family with Juberg-Marsidi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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/10.1080%2F10408360490443013

Brief clinical report: an X-linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Smith-Fineman-Myers syndrome in two brothers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Smith-Fineman-Myers syndrome in apparently monozygotic twins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Rett syndrome and MeCP2: linking epigenetics and neuronal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Preserved speech variant is allelic of classic Rett syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

[Rett phenotype in patient with XXY karyotype: case report]

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: is there a need for routine screening?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

MECP2 is highly mutated in X-linked mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Structural and functional aspects of filamins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Studies of FRAXA and FRAXE in women with premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Premature ovarian failure in the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

The fragile X premutation presenting as essential tremor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

The genomic organization of a human creatine transporter (CRTR) gene located in Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Characterisation and genetic mapping of a new X linked deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

Novel syndromic form of X-linked complicated spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F10408360490443013

10.1080/10408360490443013

21 January 2018

Identifiers

DOI

1 reference

23 July 2017

1 reference

PubMed ID

15270552