Results 1 to 10 of about 305,611 (291)

Genotype‒phenotype correlation in recessive DNAJB4 myopathy [PDF]

Acta Neuropathologica Communications
Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis.
Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A. Genetti, Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi, Ayşe Gül Zamani, Emine Göktaş, Sevgi Pekcan, Hanife Tuğçe Çağlar, Heather True, Alan H. Beggs, Conrad C. Weihl   +16 more
doaj   +5 more sources

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype [PDF]

Orphanet Journal of Rare Diseases, 2011
Background Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases.
Swinnen Freya KR, Coucke Paul J, De Paepe Anne M, Symoens Sofie, Malfait Fransiska, Gentile Filomena V, Sangiorgi Luca, D'Eufemia Patrizia, Celli Mauro, Garretsen Ton JTM, Cremers Cor WRJ, Dhooge Ingeborg JM, De Leenheer Els MR   +12 more
doaj   +5 more sources

Protein domain-specific genotype–phenotype correlation study of neurofibromatosis type 1 [PDF]

Scientific Reports
Neurofibromatosis type 1 (OMIM 613,113, NF1) is a neurocutaneous disorder caused by pathogenic genetic alteration in NF1 gene, which exhibits nearly full penetrance and affects multiple systems.
Min Ou, Strphanie KL. Ho, Ho-Ming Luk, Shirley SW. Cheng, Michael Man-Kit Lee, Tak-Wah Lam, Ivan Fai-Man Lo, Ruibang Luo   +7 more
doaj   +2 more sources

Genotype-phenotype correlation in multiple endocrine neoplasia type 1 [PDF]

JCI Insight
BACKGROUND Among patients with multiple endocrine neoplasia type 1 (MEN1), 80% develop duodenopancreatic neuroendocrine tumors (dpNETs), of whom 15%–25% die of metastasis. There is a need to identify biomarkers to predict aggressive disease.
Charlita C. Worthy, Rana Tora, Chandra N. Uttarkar, James M. Welch, Lynn Bliss, Craig Cochran, Anisha Ninan, Sheila Kumar, Stephen Wank, Sungyoung Auh, Lee S. Weinstein, William F. Simonds, Sunita K. Agarwal, Jenny E. Blau, Smita Jha   +14 more
doaj   +2 more sources

Genotype–Phenotype Correlation Model for the Spectrum of TYR-Associated Albinism [PDF]

Diagnostics
We present two children aged 3 and 5 years who share identical TYR genotype, yet exhibit contrasting phenotypic manifestations in terms of eye, skin, and hair coloration. The patients are heterozygous for TYR c.1A>G, p.
Mirjana Bjeloš, Ana Ćurić, Mladen Bušić, Benedict Rak, Biljana Kuzmanović Elabjer   +4 more
doaj   +2 more sources

Genotype-phenotype correlation in phenylketonuria [PDF]

Romanian Journal of Pediatrics, 2021
Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.
Alin Remus Iuhas, Claudia Jurca, Marius Bembea   +2 more
doaj   +1 more source

A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype

Frontiers in Pediatrics, 2023
AimX-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.
Mauro Borghi, Mauro Borghi, Leopoldo Muniz da Silva, Luciana Bispo, Carlos A. Longui   +4 more
doaj   +1 more source

GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM

Sabiad, 2022
Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger, Zehra Oya Uyguner, Birsen Karaman, Seher Başaran, Hülya Kayserili Karabey   +4 more
doaj   +1 more source

Real-Life Data From the Largest Pediatric Familial Mediterranean Fever Cohort

Frontiers in Pediatrics, 2022
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease manifesting phenotypic heterogeneity. It is a clinically diagnosed disease supported by MEditerranean FeVer (MEFV) gene mutation analysis.
Kübra Öztürk, Taner Coşkuner, Esra Baglan, Hafize Emine Sönmez, Gülçin Otar Yener, Figen Çakmak, Fatma Gül Demirkan, Ayşe Tanatar, Serife Gül Karadag, Semanur Ozdel, Ferhat Demir, Mustafa Çakan, Nuray Aktay Ayaz, Betül Sözeri   +13 more
doaj   +1 more source

Phenotype-genotype correlation in β-thalassemia

Thalassemia Reports, 2011
The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic
R. Galanello, L. Perseu, S. Satta, F.R. Demartis, S. Campus   +4 more
doaj   +1 more source