Results 11 to 20 of about 269,697 (252)

Clinical Phenotypes of Autosomal Recessive Ataxias

Pediatric Neurology Briefs, 2007
An overview of the most common autosomal recessive cerebellar ataxias is presented by researchers at the UCLA Ataxia Center, Los Angeles.
J Gordon Millichap
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

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

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

Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation [PDF]

, 2020
Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI).
Takeichi, Takuya, Takama, Hiroyuki, Ogi, Tomoo, Murase, Yuya, Kawamoto, Akane, Ishikawa, Junko, Okuno, Yusuke, Shimizu, Eri, Akiyama, Masashi, Tanahashi, Kana   +9 more
core   +1 more source

SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India

Archives of Medicine and Health Sciences, 2016
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late infantile onset spastic ataxia and other neurological features.
M Suraj Menon, C Velayudhan Shaji, K Abdulkhayar Kabeer, G Parvathy   +3 more
doaj   +1 more source

Educational Case: Autosomal Recessive Inheritance

Academic Pathology, 2017
The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology.
D. Yitzchak Goldstein MD, Michael Prystowsky MD, PhD   +1 more
doaj   +1 more source

Further genetic heterogeneity for autosomal dominant human sutural cataracts [PDF]

, 2003
A unique sutural cataract was observed in a 4-generation German family to be transmitted as an isolated autosomal, dominant trait. Since mutations in the gamma-crystallin encoding CRYG genes have previously been demonstrated to be the most frequent ...
Graw, Jochen, Illig, T., Billingsley, G., Wjst, M., Graw, J., Rudolph, G., Klopp, N., Heon, E., Klopp, N.;Heon, E.;Billingsley, G.;Illig, T.;Wjst, M.;Rudolph, G.;Graw, J.   +8 more
core   +1 more source

Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report

Contemporary Clinical Dentistry, 2011
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α1 -iduronidase.
Ramesh Tatapudi, M Gunashekhar, P Suryanarayana Raju   +2 more
doaj   +1 more source

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