Detalhe da pesquisa
1.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Clin Genet
; 105(1): 81-86, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558216
2.
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
J Med Genet
; 59(2): 189-195, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33361104
3.
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Int J Mol Sci
; 25(1)2023 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38203665
4.
Pembrolizumab as first-line treatment for metastatic uveal melanoma.
Cancer Immunol Immunother
; 68(7): 1179-1185, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175402
5.
Acute erythroid leukemia with TP53 mutation and BCR/ABL1: challenges in classification and management.
Ann Hematol
; 103(3): 1013-1014, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38017337
6.
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Am J Med Genet A
; 176(2): 455-459, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29226580
7.
A common pattern of somatic mutations in t-MDS/AML of patients treated with PARP inhibitors for metastatic ovarian cancer.
Am J Hematol
; 97(11): E400-E403, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054600
8.
Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.
Am J Med Genet A
; 170A(1): 24-31, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768331
9.
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
J Med Genet
; 52(12): 804-14, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26424144
10.
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers.
Acta Derm Venereol
; 100(1): adv00038, 2020 Jan 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31709449
11.
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.
Epilepsia
; 55(6): 849-57, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24738919
12.
Trisomy 22 Mosaicism from Prenatal to Postnatal Findings: A Case Series and Systematic Review of the Literature.
Genes (Basel)
; 15(3)2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38540405
13.
Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family.
Am J Med Genet A
; 161A(11): 2890-3, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24127197
14.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Eur J Hum Genet
; 31(6): 648-653, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797464
15.
Investigating the "Fetal Side" in Recurrent Pregnancy Loss: Reliability of Cell-Free DNA Testing in Detecting Chromosomal Abnormalities of Miscarriage Tissue.
J Clin Med
; 12(12)2023 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373593
16.
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Genes (Basel)
; 14(2)2023 01 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833170
17.
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.
Am J Med Genet A
; 158A(4): 888-93, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22419660
18.
Three unrelated patients with congenital anterior pituitary aplasia and a characteristic physical and neuropsychological phenotype: a new syndrome?
Am J Med Genet A
; 158A(11): 2750-5, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987613
19.
Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions.
Am J Med Genet A
; 158A(9): 2266-71, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821627
20.
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.
Am J Med Genet A
; 158A(7): 1604-11, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678594