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1.
Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.
Hum Mol Genet
; 26(1): 19-32, 2017 01 01.
Article
in English
| MEDLINE | ID: mdl-27798113
2.
Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.
Am J Hum Genet
; 90(3): 511-7, 2012 Mar 09.
Article
in English
| MEDLINE | ID: mdl-22341969
3.
Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.
PLoS Genet
; 8(11): e1002945, 2012.
Article
in English
| MEDLINE | ID: mdl-23144622
4.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Hum Mutat
; 35(1): 58-62, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-24130152
5.
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Hum Mol Genet
; 21(10): 2181-93, 2012 May 15.
Article
in English
| MEDLINE | ID: mdl-22328085
6.
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Hum Genet
; 133(8): 1023-39, 2014 Aug.
Article
in English
| MEDLINE | ID: mdl-24748105
7.
Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.
PLoS Genet
; 7(8): e1002247, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21901111
8.
The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.
Semin Cell Dev Biol
; 22(8): 875-85, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21802523
9.
Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.
Hum Mol Genet
; 19(7): 1324-34, 2010 Apr 01.
Article
in English
| MEDLINE | ID: mdl-20064923
10.
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.
J Clin Invest
; 124(9): 4028-38, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25105364
11.
Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.
DNA Repair (Amst)
; 12(8): 637-44, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23706772
12.
CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.
Mech Ageing Dev
; 132(8-9): 366-73, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21352845
13.
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.
Front Endocrinol (Lausanne)
; 2: 8, 2011.
Article
in English
| MEDLINE | ID: mdl-22654791
14.
Functional analysis of individual binding activities of the scaffold protein eIF4G.
J Biol Chem
; 282(3): 1695-708, 2007 Jan 19.
Article
in English
| MEDLINE | ID: mdl-17130132
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