Detalhe da pesquisa
1.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
2.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome.
Genes Chromosomes Cancer
; 61(12): 740-746, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35999193
3.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279366
4.
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Genet Med
; 23(7): 1202-1210, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674768
5.
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Am J Med Genet A
; 185(6): 1897-1902, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33750022
6.
Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.
BMC Pediatr
; 20(1): 120, 2020 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32164589
7.
LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.
Am J Med Genet A
; 179(1): 104-112, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565850
8.
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Am J Med Genet A
; 179(10): 2083-2090, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31368652
9.
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
Int J Mol Sci
; 20(8)2019 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30988269
10.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Hum Mutat
; 39(10): 1428-1441, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007050
11.
Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.
J Pediatr
; 202: 272-278.e4, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30193751
12.
Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.
Am J Med Genet A
; 176(9): 1991-1995, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30088855
13.
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
J Obstet Gynaecol Can
; 45(8): 558-559, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37201580
14.
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Hum Mutat
; 38(7): 798-804, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390077
15.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283410
16.
Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.
Pediatr Blood Cancer
; 63(4): 719-22, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26626406
17.
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
BMC Med Genet
; 16: 78, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334530
18.
Spinal ependymoma in a patient with Kabuki syndrome: a case report.
BMC Med Genet
; 16: 80, 2015 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26341229
19.
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.
BMC Cancer
; 15: 841, 2015 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26530098
20.
Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.
Am J Med Genet A
; 167(7): 1637-43, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25820919