Meier-Gorlin syndrome: report of eight additional cases and review.
about
Mutations in the pre-replication complex cause Meier-Gorlin syndromeMeier-Gorlin syndromeDiseases associated with defective responses to DNA damageReplication proteins and human diseaseMeier-Gorlin syndrome (ear-patella-short stature syndrome) in an Italian patient: clinical evaluation and analysis of possible candidate genesAdvances in Skeletal Dysplasia GeneticsPrimordial dwarfism: overview of clinical and genetic aspects.Nail patella syndrome: a review of the phenotype aided by developmental biologyFine 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 diagnosisPOC1A 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 disorderControl of DNA Replication Initiation by Ubiquitin
P2860
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P2860
Meier-Gorlin syndrome: report of eight additional cases and review.
description
2001 nî lūn-bûn
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2001 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
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.
@ast
Meier-Gorlin syndrome: report of eight additional cases and review.
@en
Meier-Gorlin syndrome: report of eight additional cases and review.
@nl
type
label
Meier-Gorlin syndrome: report of eight additional cases and review.
@ast
Meier-Gorlin syndrome: report of eight additional cases and review.
@en
Meier-Gorlin syndrome: report of eight additional cases and review.
@nl
prefLabel
Meier-Gorlin syndrome: report of eight additional cases and review.
@ast
Meier-Gorlin syndrome: report of eight additional cases and review.
@en
Meier-Gorlin syndrome: report of eight additional cases and review.
@nl
P2093
P2860
P356
P1476
Meier-Gorlin syndrome: report of eight additional cases and review
@en
P2093
D W Superneau
E M Bongers
M Harbison
N V Knoers
P2860
P304
P356
10.1002/AJMG.1452
P577
2001-08-01T00:00:00Z