Meier-Gorlin syndrome: report of eight additional cases and review. - Wikidata - wikimedia - TriplyDB

Meier-Gorlin syndrome: report of eight additional cases and review.

Meier-Gorlin syndrome: report of eight additional cases and review.

http://www.wikidata.org/entity/Q34321932

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Mutations in the pre-replication complex cause Meier-Gorlin syndrome Meier-Gorlin syndrome Diseases associated with defective responses to DNA damage Replication proteins and human disease Meier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genes Advances in Skeletal Dysplasia Genetics Primordial dwarfism: overview of clinical and genetic aspects.Nail patella syndrome: a review of the phenotype aided by developmental biology Fine mapping of a QTL for ear size on porcine chromosome 5 and identification of high mobility group AT-hook 2 (HMGA2) as a positional candidate gene.Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Mechanisms and pathways of growth failure in primordial dwarfism.The origin recognition complex in human diseases.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.QTL modulating ear size and erectness in pigs.International nosology and classification of constitutional disorders of bone (2001).New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder Control of DNA Replication Initiation by Ubiquitin

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Meier-Gorlin syndrome: report of eight additional cases and review.

http://www.wikidata.org/entity/Q34321932

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2001 nî lūn-bûn

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2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2001 թվականի օգոստոսին հրատարակված գիտական հոդված

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2001年の論文

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年学术文章

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2001年學術文章

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name

Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

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Meier-Gorlin syndrome: report of eight additional cases and review.

@en

Meier-Gorlin syndrome: report of eight additional cases and review.

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American Journal of Medical Genetics Part A

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Meier-Gorlin syndrome: report of eight additional cases and review

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P2093

A Fryer

http://www.w3.org/2001/XMLSchema#string

A Poss

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B C Hamel

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B D Hall

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D W Superneau

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E M Bongers

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J M Opitz

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M Harbison

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N V Knoers

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P Sarda

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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Coffin-Siris syndrome.

The mouse short ear skeletal morphogenesis locus is associated with defects in a bone morphogenetic member of the TGF beta superfamily

Microtia and short stature: a new syndrome

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndrome.

Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

BMP5 and the molecular, skeletal, and soft-tissue alterations in short ear mice.

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115-124

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scholarly article

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10.1002/AJMG.1452

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2

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102

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Hans Van Bokhoven

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2001-08-01T00:00:00Z

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11477602

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