Results 11 to 20 of about 256,394 (202)

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   +2 more sources

Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes

Human Genome Variation
Hereditary ataxias are classified by inheritance patterns into autosomal dominant, autosomal recessive, X-linked, and mitochondrial modes of inheritance.
Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia   +9 more
doaj   +2 more sources

The Autosomal Recessive Inheritance of Hereditary Gingival Fibromatosis [PDF]

Case Reports in Dentistry, 2013
Hereditary gingival fibromatosis (HGF) is a rare condition which is marked by enlargement of gingival tissue that covers teeth to various extents leading to aesthetic disfigurement.
Poulami Majumder, Vineet Nair, Malancha Mukherjee, Sujoy Ghosh, Subrata Kumar Dey   +4 more
doaj   +2 more sources

Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

Indian Journal of Dermatology, 2014
We describe a case of anhidrotic ectodermal dysplasia (AED) with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents.
Sangita Ghosh, Epsita Ghosh, Surabhi Dayal   +2 more
doaj   +2 more sources

A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder

The Application of Clinical Genetics, 2011
Chantal Farra1,2, Khaled Yunis1, Nadine Yazbeck1, Marianne Majdalani1, Lama Charafeddine1, Rima Wakim1, Johnny Awwad31Department of Pediatrics and Adolescent Medicine, 2Department of Pathology, 3Department of Obstetrics and Gynecology, American ...
Farra C, Yunis K, Yazbeck N, Majdalani M, Charafeddine L, Wakim R, Awwad J   +6 more
doaj   +2 more sources

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation [PDF]

, 2011
Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children.
Steenbergen, Gerry, van Reeuwijk, Jeroen, Lefeber, Dirk J, Kapusta, Livia, Wevers, Ron A, Zucker, Nili, Lammens, Martin, Absmanner, Birgit, Morava, Eva, van den Akker, Willem M R, Knopf, Carlos, Verrijp, Kiek, Grunewald, Stephanie, Schuurs-Hoeijmakers, Janneke H M, van Bokhoven, Hans, Jóźwiak, Adam, Lorber, Avraham, Riemersma, Moniek, Huijben, Karin, Lehle, Ludwig, Mandel, Hanna   +20 more
core   +5 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Exclusion of the Locus for Autosomal Recessive Pseudohypoaldosteronism Type 1 from the Mineralocorticoid Receptor Gene Region on Human Chromosome 4q by Linkage Analysis. [PDF]

, 1995
Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids.
Hanukoglu, A., Gardiner, R.M., Bistritzer, T., Seckl, J., Chung, E., Kuhnle, U., Dillon, M., Gardiner, R. M., Hanukoglu, I., Rees, M., Thompson, R.   +10 more
core   +1 more source

Inheritance patterns of localized aggressive periodontitis: A systematic review

Journal of Indian Association of Public Health Dentistry, 2017
Inheritance patterns are traits/diseases that are passed from parents to offspring through genes. Elucidation of inheritance pattern of localized aggressive periodontitis may permit us to have a better understanding of the disease etiology, thereby ...
Jaseela Praveena, Hemant Battur, Nusrath Fareed, Sanjeev Khanagar, Manohara Bhat   +4 more
doaj   +1 more source

A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene

Анналы клинической и экспериментальной неврологии, 2021
Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600).
Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly   +4 more
doaj   +1 more source