Detalhe da pesquisa
1.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
2.
Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.
Mol Vis
; 28: 57-69, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35693420
3.
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Am J Hum Genet
; 103(6): 1038-1044, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503519
4.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
5.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(2): 221-231, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057030
6.
Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
Am J Hum Genet
; 101(5): 856-865, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29100095
7.
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Hum Mutat
; 40(8): 1063-1070, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31045292
8.
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta.
Am J Hum Genet
; 99(4): 984-990, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693231
9.
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet
; 98(4): 615-26, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26996948
10.
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain.
Am J Hum Genet
; 97(6): 878-85, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626625
11.
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Am J Med Genet A
; 176(2): 465-469, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29265708
12.
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
Am J Hum Genet
; 93(6): 1135-42, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290375
13.
Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta.
Am J Hum Genet
; 92(2): 307-12, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23375655
14.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet
; 103(3): 456, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193137
15.
HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome.
J Med Genet
; 52(12): 797-803, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424145
16.
Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta.
Am J Hum Genet
; 91(3): 565-71, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22901946
17.
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
BMC Med Genet
; 16: 8, 2015 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25928877
18.
A meckelin-filamin A interaction mediates ciliogenesis.
Hum Mol Genet
; 21(6): 1272-86, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22121117
19.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Hum Mol Genet
; 21(4): 776-83, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22068589
20.
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Am J Hum Genet
; 89(3): 451-8, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21885028