Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
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Meier-Gorlin syndromeDiseases associated with defective responses to DNA damageReplication proteins and human diseaseLINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in MiceRegulation and Function of Cdt1; A Key Factor in Cell Proliferation and Genome StabilityAdvances in Skeletal Dysplasia GeneticsIdentification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel SyndromeIdentification of breast cancer prognostic modules based on weighted protein-protein interaction networks.Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication"The Octet": Eight Protein Kinases that Control Mammalian DNA Replication.De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.Opposing roles for DNA replication initiator proteins ORC1 and CDC6 in control of Cyclin E gene transcription.A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formationMutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.Novel Genetic Associations and Range of Phenotypes in Children with Disorders of Sex Development and Neurodevelopment: Insights from the Deciphering Developmental Disorders Study.Dormant origins, the licensing checkpoint, and the response to replicative stressesThe origin recognition complex in human diseases.The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery.Dormant origins as a built-in safeguard in eukaryotic DNA replication against genome instability and disease development.Structure of the active form of human origin recognition complex and its ATPase motor module.A patient with van Maldergem syndrome with endocrine abnormalities, hypogonadotropic hypogonadism, and breast aplasia/hypoplasia.MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.Drosophila model of Meier-Gorlin syndrome based on the mutation in a conserved C-Terminal domain of Orc6.Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3.Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report.Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutationsMeier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder
P2860
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P2860
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
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2012 nî lūn-bûn
@nan
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
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2012年论文
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name
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
@ast
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
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type
label
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
@ast
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
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prefLabel
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
@ast
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
@en
P2093
P2860
P50
P356
P1476
Meier-Gorlin syndrome genotype ...... 10 without molecular diagnosis
@en
P2093
A Radha Ramadevi
Alaa Y Edrees
Alan Fryer
Alison Ross
Andrew P Jackson
Constance T R M Schrander-Stumpel
David L Skidmore
Diana Johnson
Ernie M H F Bongers
Han G Brunner
P2860
P2888
P304
P356
10.1038/EJHG.2011.269
P577
2012-02-15T00:00:00Z
P5875
P6179
1047473579