Detalhe da pesquisa
1.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
2.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
3.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
4.
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Am J Hum Genet
; 108(10): 1981-2005, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34582790
5.
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Am J Hum Genet
; 105(1): 132-150, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230720
6.
The evaluation of potential global impact of the N501Y mutation in SARS-COV-2 positive patients.
J Med Virol
; 94(3): 1009-1019, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34676574
7.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
Am J Hum Genet
; 102(1): 27-43, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29276006
8.
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.
J Hum Genet
; 66(7): 647-657, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33483584
9.
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
PLoS Genet
; 14(8): e1007602, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30148830
10.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(12): 2386-2388, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861177
11.
Foramina parietalia permagna: familial and radiological evaluation of two cases and review of literature.
Childs Nerv Syst
; 33(5): 853-857, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27975139
12.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Hum Genet
; 135(12): 1399-1409, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681385
13.
Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.
J Ultrasound Med
; 35(10): 2285-91, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27582535
14.
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability.
HGG Adv
; 3(4): 100132, 2022 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36035248
15.
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Genes (Basel)
; 12(4)2021 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33807164
16.
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.
Eur J Hum Genet
; 29(3): 524-527, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082526
17.
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
J Clin Endocrinol Metab
; 104(8): 3049-3067, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31042289
18.
How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?
J Matern Fetal Neonatal Med
; 30(8): 938-941, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193571
19.
A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family.
Biochem Med (Zagreb)
; 26(2): 264-71, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27346974
20.
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.
Int J Cardiol
; 186: 13-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25804457