Detalhe da pesquisa
1.
Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.
Am J Hum Genet
; 110(4): 681-690, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36996813
2.
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
3.
Prenatal Array-CGH Detection of 3q26.32q26.33 Interstitial Deletion Encompassing the SOX2 Gene: Ultrasound, Pathological, and Cytogenetic Findings.
Fetal Pediatr Pathol
; 42(6): 979-989, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747279
4.
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Int J Mol Sci
; 22(11)2021 May 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34072463
5.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype.
Cytogenet Genome Res
; 157(3): 135-140, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933954
6.
Infectious meningitis/encephalitis: evaluation of a rapid and fully automated multiplex PCR in the microbiological diagnostic workup.
New Microbiol
; 41(2): 118-125, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29620789
7.
BRCA2 in Ovarian Development and Function.
N Engl J Med
; 380(11): 1086-1087, 2019 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-30865813
8.
Consanguinity and polygenic diseases: a model for antibody deficiencies.
Hum Hered
; 77(1-4): 144-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060277
9.
A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.
BMC Cancer
; 14: 70, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498881
10.
Identification of the DNA methylation signature of Mowat-Wilson syndrome.
Eur J Hum Genet
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38351292
11.
Mutations of the Igbeta gene cause agammaglobulinemia in man.
J Exp Med
; 204(9): 2047-51, 2007 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-17709424
12.
Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma.
Hum Mol Genet
; 20(12): 2394-405, 2011 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21470976
13.
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report.
Brain Dev
; 45(8): 445-450, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271660
14.
Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.
Front Neurol
; 14: 1207176, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37521304
15.
Characterization of BRCA Deficiency in Ovarian Cancer.
Cancers (Basel)
; 15(5)2023 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36900320
16.
Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation.
Front Genet
; 14: 1231434, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37636262
17.
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Genes (Basel)
; 14(3)2023 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980822
18.
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.
J Med Genet
; 48(11): 779-82, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21926107
19.
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.
Biomedicines
; 11(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672590
20.
MCPH1: A Novel Case Report and a Review of the Literature.
Genes (Basel)
; 13(4)2022 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456440