Detalhe da pesquisa
1.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
2.
Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion.
Acta Neuropathol
; 147(1): 64, 2024 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556574
3.
Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI study.
Cereb Cortex
; 33(9): 5210-5217, 2023 04 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36255323
4.
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Am J Hum Genet
; 104(2): 203-212, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612693
5.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clin Genet
; 101(2): 183-189, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34671974
6.
DTYMK is essential for genome integrity and neuronal survival.
Acta Neuropathol
; 143(2): 245-262, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34918187
7.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 99(4): 991-999, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27693232
8.
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Ann Neurol
; 84(2): 200-207, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30014507
9.
Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
Am J Med Genet A
; 179(2): 219-223, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30556359
10.
Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
Am J Med Genet A
; 188(3): 1000-1004, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894067
11.
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
12.
Body proportions in children with Kabuki syndrome.
Am J Med Genet A
; 170(3): 610-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26553706
13.
Growth pattern in Kabuki syndrome with a KMT2D mutation.
Am J Med Genet A
; 170(12): 3172-3179, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530205
14.
The cilium: a cellular antenna with an influence on obesity risk.
Br J Nutr
; 116(4): 576-92, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27323230
15.
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
Fetal Pediatr Pathol
; 35(2): 112-9, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26882358
16.
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Am J Hum Genet
; 100(1): 179, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28061364
17.
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
Fam Cancer
; 22(1): 103-118, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35856126
18.
Preimplantation genetic testing for Neurofibromatosis type 1: more than 20 years of clinical experience.
Eur J Hum Genet
; 31(8): 918-924, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337089
19.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
20.
Aging in Prader-Willi syndrome: twelve persons over the age of 50 years.
Am J Med Genet A
; 158A(6): 1326-36, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585395