Detalhe da pesquisa
1.
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Lancet Oncol
; 25(5): 668-682, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552658
2.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38520561
3.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
4.
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.
Brain
; 145(9): 3308-3327, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35851598
5.
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Genet Med
; 24(12): 2464-2474, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36214804
6.
Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.
J Med Genet
; 57(2): 121-123, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31363008
7.
Isolated cardiomyopathy in a pathogenic X-linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms.
Am J Med Genet A
; 194(3): e63475, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37961025
8.
Two females with distinct de novo missense pathogenic variants in MED12 and vastly differing phenotypes.
Am J Med Genet A
; 185(8): 2582-2585, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33913598
9.
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Am J Med Genet A
; 182(6): 1535-1536, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32202700
10.
Cholesterol and family history: when genetics matters.
J Ark Med Soc
; 111(9): 184-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25993767
11.
Personalized Medicine: Monogenic Diabetes.
J Ark Med Soc
; 112(5): 58-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26390534
12.
In reply to "Mast Cell Disorders in Ehlers-Danlos Syndrome".
Am J Med Genet A
; 176(1): 250, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29130629
13.
A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges.
J Med Genet
; 54(10): 682-684, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28754699
14.
Genetics and cardiovascular disease: the impact of molecular diagnosis.
J Ark Med Soc
; 109(11): 230-2, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23691714
15.
Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.
Am J Case Rep
; 24: e941413, 2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992003
16.
Germline mosaicism in Cornelia de Lange syndrome.
Am J Med Genet A
; 158A(6): 1481-5, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22581668
17.
Gnathodiaphyseal dysplasia presenting as polyostotic fibrous dysplasia.
Am J Med Genet A
; 167(6): 1421-2, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25866257
18.
Association of metabolic syndrome with glioblastoma: a retrospective cohort study and review.
Neurooncol Pract
; 7(5): 541-548, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33014395
19.
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B.
Am J Med Genet A
; 164A(7): 1857-9, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700687
20.
A rare mutation in hypophosphatasia: a case report of adult form and review of the literature.
Arch Endocrinol Metab
; 63(1): 89-93, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30864637