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1.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Am J Hum Genet;
105(3): 631-639, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353024
2.
Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.
Brain;
142(10): 2948-2964, 2019 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501903
3.
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Hum Mutat;
40(5): 532-538, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740830
4.
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Genet Med;
21(9): 2025-2035, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30723320
5.
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genet Med;
21(9): 2036-2042, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30739909
6.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med;
21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
7.
Retinoic acid receptor beta variant-related colonic hypoganglionosis.
Am J Med Genet A;
179(5): 817-821, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30790422
8.
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Am J Med Genet A;
179(9): 1783-1790, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294511
9.
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
J Med Genet;
52(9): 627-35, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26185144
10.
Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-arm translocation.
Cytogenet Genome Res;
144(4): 280-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25632983
11.
An intragenic deletion of the gene MNAT1 in a family with pectus deformities.
Am J Med Genet A;
164A(5): 1293-7, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664931
12.
Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.
Am J Med Genet A;
161A(8): 1992-8, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894059
13.
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Eur J Hum Genet;
2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395947
14.
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Mol Autism;
10: 35, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31649809
15.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nat Commun;
10(1): 3094, 2019 07 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31300657
16.
Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.
Mol Syndromol;
7(2): 80-6, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27385964
17.
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
JCI Insight;
1(9)2016 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27631024