Results 1 to 10 of about 140,855 (118)

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families [PDF]

BMC Neurology
Background Autosomal recessive microcephaly encompasses a group of rare neurogenetic disorders in which microcephaly presents at birth or postnatally as part of a syndromic disorder.
Bilal Ahmad, Matthew Adams, Iram Javed, Muhammad Tariq, Anees Muhammad, Laura Harrold, Rebecca J. Almond, Nishanka Ubeyratna, Muhammad Tahir Sarwar, Joseph S. Leslie, Andrew H. Crosby, Emma L. Baple, Lettie E. Rawlins, Muhammad Qasim   +13 more
doaj   +2 more sources

Autosomal recessive MALTA syndrome with compound heterozygous [PDF]

JID Innovations
Distinguishing microcystic adnexal carcinoma from MALTA ( MYH9 -associated elastin aggregation) syndrome is critical to prevent unnecessary aggressive surgery.
Etta Hanlon, Katherine L. Brown, Haley M. Michel, Clinton Roby, Matthew G. Urbano, Dzenis Mahmutovic, Priyenka Khatiwada, Daniel G.S. Capelluto, Jane Gay, Anne M. Brown, Douglas J. Grider, Carla V. Finkielstein   +11 more
doaj   +2 more sources

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Slovenska pediatrija, 2022
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin.
Anja Fon Gabršček, Rina Rus
doaj   +1 more source

A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease

Advanced Biomedical Research, 2023
Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood.
Narges Zare, Hosein Saneian, Majid Khademian   +2 more
doaj   +1 more source

Autosomal recessive osteopetrosis: mechanisms and treatments

Disease Models & Mechanisms, 2021
Autosomal recessive osteopetrosis (ARO) is a severe inherited bone disease characterized by defective osteoclast resorption or differentiation. Clinical manifestations include dense and brittle bones, anemia and progressive nerve compression, which ...
Sara Penna, Anna Villa, Valentina Capo
doaj   +1 more source

Zebrafish Models of Autosomal Recessive Ataxias

Cells, 2021
Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

Animal Models of Autosomal Recessive Parkinsonism

Biomedicines, 2021
Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta.
Guendalina Bastioli, Maria Regoni, Federico Cazzaniga, Chiara Maria Giulia De Luca, Edoardo Bistaffa, Letizia Zanetti, Fabio Moda, Flavia Valtorta, Jenny Sassone   +8 more
doaj   +1 more source

Autosomal recessive cerebellar ataxias

Orphanet Journal of Rare Diseases, 2006
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal ...
Palau Francesc, Espinós Carmen
doaj   +1 more source

Autosomal recessive split-hand/split-foot malformation

Journal of Mahatma Gandhi Institute of Medical Sciences, 2016
Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot.
Monojit Mondal, Biswajit Biswas, Kaustav Nayek, Asok Kumar Datta   +3 more
doaj   +1 more source

Autosomal-Recessive Hyper-IgE syndrome

Indian Journal of Dermatology, 2018
The hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency characterised by recurrent infections, eczema, and elevated serum levels of IgE.
Mohapatra Liza, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, Behera Binodini   +4 more
doaj   +1 more source