(Q55054998)

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A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

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1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. (English)

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

microcephalic osteodysplastic primordial dwarfism type I

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Ghada M Abdel-Salam

1

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Ghada Y El-Kamah

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Ghada Y El-Kamah

9

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Ola M Eid

6

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Maha M Eid

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author name string

Noriko Miyake

2

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Mohamed S Abdel-Hamid

4

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Nihal A Hassan

5

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Laila K Effat

7

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Tarek H El-Badry

8

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Mohamed El-Darouti

10

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Naomichi Matsumoto

11

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16 June 2018

http://europepmc.org/abstract/MED/21990275

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11 October 2011

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16 June 2018

http://europepmc.org/abstract/MED/21990275

American Journal of Medical Genetics

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16 June 2018

http://europepmc.org/abstract/MED/21990275

155A

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

11

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

2885-2896

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Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

Novel CENPJ mutation causes Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Multiple intracranial aneurysms in a patient with Seckel syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

The haplo-spliceo-transcriptome: common variations in alternative splicing in the human population

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Ocular manifestations of Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Genetics. Minor splicing, disrupted.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Microcephalic osteodysplastic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus

1 reference

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21 January 2018

A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy

1 reference

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21 January 2018

Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Osteodysplastic variant of primordial dwarfism

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

An apparently new syndrome of microcephalic primordial dwarfism and cataracts

1 reference

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21 January 2018

Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Splicing in disease: disruption of the splicing code and the decoding machinery

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.34299

21 January 2018

Identifiers

10.1002/AJMG.A.34299

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

1 reference

Europe PubMed Central

16 June 2018

http://europepmc.org/abstract/MED/21990275

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