Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531365
2.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Hum Mol Genet
; 31(19): 3325-3340, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604360
3.
Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.
Mol Genet Metab
; 141(2): 108119, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38184429
4.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Am J Hum Genet
; 107(1): 164-172, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32553196
5.
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Am J Med Genet A
; 191(2): 490-497, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36513625
6.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749428
7.
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
Clin Genet
; 99(2): 313-317, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33156547
8.
De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Genet Med
; 21(9): 2059-2069, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923367
9.
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.
Am J Med Genet A
; 179(11): 2284-2291, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31403263
10.
A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.
Am J Physiol Heart Circ Physiol
; 313(2): H283-H292, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550180
11.
PRKAG2 mutations presenting in infancy.
J Inherit Metab Dis
; 40(6): 823-830, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801758
12.
Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?
J Pediatr
; 209: 9-10, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30819502
13.
Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.
J Pediatr Gastroenterol Nutr
; 68(6): e106-e108, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30633106
14.
Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.
Orthop Res Rev
; 15: 39-45, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36987449
15.
LRP5, Bone Mass Polymorphisms and Skeletal Disorders.
Genes (Basel)
; 14(10)2023 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895195
16.
Ochronotic Chondropathy: A Case Report.
Biomedicines
; 11(10)2023 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37892999
17.
The emerging phenotype of long-term survivors with infantile Pompe disease.
Genet Med
; 14(9): 800-10, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22538254
18.
Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes.
J Pediatr
; 158(4): 538-42, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21232766
19.
Bosch-Boonstra-Schaaf optic atrophy syndrome mimicking septo-optic dysplasia in a 10-year-old child.
J AAPOS
; 25(5): 314-316, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425235
20.
Sporadic uterine Lymphangioleiomyomatosis (LAM): Report of a unique case arising in the lower uterine segment with short review.
Gynecol Oncol Rep
; 37: 100812, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34195331