Detalhe da pesquisa
1.
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Am J Med Genet A
; 182(4): 866-876, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31913576
2.
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.
Am J Hum Genet
; 99(6): 1388-1394, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27889061
3.
Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet
; 92(6): 1001-7, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23731542
4.
Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
Am J Med Genet A
; 170A(4): 967-77, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26692240
5.
Regulatory news: Dojolvi (triheptanoin) as a source of calories and fatty acids in long-chain fatty acid oxidation disorders: FDA approval summary.
J Inherit Metab Dis
; 44(3): 515-517, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33729583
6.
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Am J Med Genet A
; 161A(10): 2420-30, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23918763
7.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Am J Med Genet A
; 161A(8): 1833-52, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813913
8.
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum Mutat
; 33(3): 457-66, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22213154
9.
Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.
Am J Med Genet A
; 167A(8): 1944-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900722
10.
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Mol Genet Metab
; 94(4): 498-502, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18524659
11.
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases.
Am J Med Genet A
; 146A(23): 3038-53, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19006208
12.
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
Am J Med Genet A
; 146A(13): 1637-54, 2008 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18536050
13.
Single-gene autosomal recessive disorders and Prader-Willi syndrome: an update for food and nutrition professionals.
J Am Diet Assoc
; 107(3): 466-78, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17324666
14.
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
JIMD Rep
; 20: 1-4, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25690727
15.
An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine.
Mol Genet Metab Rep
; 3: 47-54, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26937396
16.
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
Cold Spring Harb Mol Case Stud
; 1(1): a000455, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148570
17.
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
AJNR Am J Neuroradiol
; 24(7): 1471-4, 2003 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-12917150
18.
Concurrent non-ketotic hyperglycinemia and propionic acidemia in an eight year old boy.
Mol Genet Metab Rep
; 1: 237-240, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896094
19.
Digital facial dysmorphology for genetic screening: Hierarchical constrained local model using ICA.
Med Image Anal
; 18(5): 699-710, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24835178
20.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Mol Genet Metab Rep
; 1: 66-70, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896076