A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. (Q34573174)

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A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

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English	A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.	scientific article	A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation

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scholarly article

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20 December 2019

A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17033686%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

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Isabel Martinez Garay

1

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20 December 2019

Silvestre Oltra

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20 December 2019

Francisco Martinez

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20 December 2019

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Alfons Meindl

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20 December 2019

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Juliane Ramser

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20 December 2019

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Miguel Tomás

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20 December 2019

Maria D Moltó

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20 December 2019

Félix Prieto

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20 December 2019

Kerstin Kutsche

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20 December 2019

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11 October 2006

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20 December 2019

European Journal of Human Genetics

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20 December 2019

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20 December 2019

1

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20 December 2019

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20 December 2019

Splitting and lumping in the nosology of XLMR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

X linked mental retardation: a clinical guide

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

X-linked mental retardation: further lumping, splitting and emerging phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Renpenning syndrome comes into focus

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

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.5201717

21 January 2018

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Germline and gonosomal mosaicism in the ATR-X syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Germ line mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

21 January 2018

Germline mosaicism in Rett syndrome identified by prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

7 January 2021

based on heuristic

inferred from DOI database lookup

Heredofamilial bilateral anophthalmia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201717

7 January 2021

based on heuristic

inferred from DOI database lookup

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