Значок книги

Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder

<p>Muscular dystrophy (MD) is a heterogeneous group of diseases that cause progressive weakness and loss of muscle mass. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. We report here a case of a Tunisian patient...

Полное описание

Сохранить в:

Библиографические подробности
Главный автор:	Exome sequencing reveals a homozygous frameshift variant in CAPN3 in a Tunisian patient with a neuromuscular disorder (Автор)
Формат:	‌
Опубликовано:	Annals of Molecular and Genetic Medicine - Peertechz Publications, 2022-09-27.
Предметы:	Research Article
Online-ссылка:	Connect to this object online.
Метки:	Добавить метку Нет меток, Требуется 1-ая метка записи!

Схожие документы

Cap'n Eri
по: Lincoln, Joseph Crosby, 1870-1944

A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients
по: Nagwa E. A. Gaboon, и др.
Опубликовано: (2020)

Cap'n Warren's Wards
по: Lincoln, Joseph Crosby, 1870-1944

Cap'n Dan's Daughter
по: Lincoln, Joseph Crosby, 1870-1944

Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
по: Aparna Prasad, и др.
Опубликовано: (2018)

A Novel Homozygous Frameshift Mutation in CCN6 Causing Progressive Pseudorheumatoid Dysplasia (PPRD) in a Consanguineous Yemeni Family
по: Nagwa E. A. Gaboon, и др.
Опубликовано: (2019)

Cap'n Abe, Storekeeper: A Story of Cape Cod
по: Cooper, James A., 1862-1930

A novel frameshift mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome using targeted exome sequencing
по: Lusi Zhang, и др.
Опубликовано: (2019)

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
по: Ahmet Kablan, и др.
Опубликовано: (2024)

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report
по: Elham Salehi Siavashani, и др.
Опубликовано: (2023)

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding
по: Fang-Mei Luo, и др.
Опубликовано: (2021)

The Skipper and the Skipped: Being the Shore Log of Cap'n Aaron Sproul
по: Day, Holman, 1865-1935

CAPN2 correlates with insulin resistance states in PCOS as evidenced by multi-dataset analysis
по: Xi Luo, и др.
Опубликовано: (2024)

Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome
по: Soraya Gholizad-kolveiri, и др.
Опубликовано: (2020)

Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan
по: Chien-Hua Wang, и др.
Опубликовано: (2015)

Carrimycin inhibits coronavirus replication by decreasing the efficiency of programmed -1 ribosomal frameshifting through directly binding to the RNA pseudoknot of viral frameshift-stimulatory element
по: Hongying Li, и др.
Опубликовано: (2024)

Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles
по: Korbinian Maria Riedhammer, и др.
Опубликовано: (2017)

Sky Island Being the further exciting adventures of Trot and Cap'n Bill after their visit to the sea fairies
по: Baum, L. Frank (Lyman Frank), 1856-1919

Sky Island Being the Further Exciting Adventures of Trot and Cap'n Bill After Their Visit to the Sea Fairies
по: Baum, L. Frank (Lyman Frank), 1856-1919; Neill, John R. (John Rea), 1877-1943 [Illustrator]

Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
по: Ha Na Lee, и др.
Опубликовано: (2020)

Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila
по: Jung Hwan Kim, и др.
Опубликовано: (2020)

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants
по: María Lachgar-Ruiz, и др.
Опубликовано: (2023)

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss
по: Guangxian Yang, и др.
Опубликовано: (2021)

Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families
по: Ambreen Ijaz, и др.
Опубликовано: (2021)

Deciphering an isolated lung phenotype of NKX2-1 frameshift pathogenic variant
по: Céline Delestrain, и др.
Опубликовано: (2023)

Termination of pregnancy for fetal anomaly in a Tunisian population
по: E Hamida, и др.
Опубликовано: (2017)

Laparoscopic Appendectomy in Children: Tunisian Experience
по: Hayet Zitouni, и др.
Опубликовано: (2024)

Exome analysis of carotid body tumor
по: Anastasiya V. Snezhkina, и др.
Опубликовано: (2018)

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
по: N. V. Shcherbakova, и др.
Опубликовано: (2015)

PHARMACOGENETIC TESTING OPPORTUNITIES IN CARDIOLOGY BASED ON EXOME SEQUENCING
по: N. V. Shcherbakova, и др.
Опубликовано: (2015)

Congenital ichthyosiform erythroderma with epidermolysis due to a novel frameshift mutation in KRT10
по: Bernadett Kurz, MD, и др.
Опубликовано: (2023)

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
по: Dudding Tracy, и др.
Опубликовано: (2010)

Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
по: Ahmad Daneshi, и др.
Опубликовано: (2023)

MiR-585-3p suppresses tumor proliferation and migration by directly targeting CAPN9 in high grade serous ovarian cancer
по: Xiaoyuan Lu, и др.
Опубликовано: (2021)

Homozygous Methemoglobinemia Course in a 2-Year-Old Girl
по: Marina S. Malyugina, и др.
Опубликовано: (2023)

Exome-wide survey of the Siberian Caucasian population
по: Andrey A. Yurchenko, и др.
Опубликовано: (2019)

Reliability of the tunisian pediatric gait, arms, legs, and spine: toward a valid screening tool for tunisian children with musculoskeletal conditions
по: Lassoued Ferjani Hanene, и др.
Опубликовано: (2023)

Kyrle disease: report of a Tunisian case
по: Salsabil Attafi, и др.
Опубликовано: (2015)

HIV epidemiology in Tunisia: is it the same for Tunisians and migrants?
по: Ines Boughzala, и др.
Опубликовано: (2018)

Correlation between TCF7L2 and CAPN10 gene polymorphisms and gestational diabetes mellitus in different geographical regions: a meta-analysis
по: Jingjing He, и др.
Опубликовано: (2024)