Detalhe da pesquisa
1.
Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis.
EMBO J
; 41(2): e105531, 2022 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904718
2.
A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Brain
; 146(8): 3513-3527, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917474
3.
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Yale J Biol Med
; 96(3): 367-382, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780995
4.
A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.
Yale J Biol Med
; 96(3): 313-325, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780997
5.
Homozygous Mutations in Thyroid Peroxidase (TPO) in Hypothyroidism with Intellectual Disability, Developmental Delay, and Hearing and Ocular Anomalies in Two Families: Severe Manifestation of Untreated TPO-deficiency Poses a Diagnostic Dilemma.
Yale J Biol Med
; 96(3): 347-365, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37780999
6.
A homozygous ROR2 variant in a family with atypical Robinow syndrome and tetramelic transverse deficiency of autopods.
Am J Med Genet A
; 188(1): 343-349, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569147
7.
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.
J Hum Genet
; 66(2): 171-179, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778762
8.
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
Am J Med Genet A
; 185(6): 1858-1863, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33709629
9.
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism.
J Hum Genet
; 65(12): 1115-1123, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32737394
10.
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
Clin Genet
; 96(5): 456-460, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353455
11.
Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly.
J Med Genet
; 55(7): 489-496, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29514872
12.
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.
J Med Genet
; 55(3): 189-197, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29127258
13.
STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16.
Hum Mutat
; 39(10): 1344-1348, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30058754
14.
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
Am J Med Genet A
; 173(9): 2494-2499, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28636205
15.
Other autoinflammatory disease genes in an FMF-prevalent population: a homozygous MVK mutation and a novel heterozygous TNFRSF1A mutation in two different Turkish families with clinical FMF.
Clin Exp Rheumatol
; 35 Suppl 108(6): 75-81, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29148404
16.
The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.
Mol Biol Evol
; 32(3): 661-73, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468874
17.
RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
Am J Med Genet A
; 167A(12): 3148-52, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333564
18.
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
J Med Genet
; 51(4): 239-44, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24431330
19.
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy.
Mod Rheumatol
; 25(2): 315-21, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24533558
20.
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
BMC Med Genet
; 15: 10, 2014 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-24433453