Results 11 to 20 of about 157,517 (293)

Autosomal dominant microcephaly

The Journal of Pediatrics, 1982
Livia N. Rossi, M. Battilana
openalex   +3 more sources

Autosomal dominant polycythemia [PDF]

Blood, 1985
Abstract Two families with polycythemia inherited as an autosomal dominant trait are described. Serial hemoglobin determinations in multiple family members and RBC volume measurements in selected affected subjects documented their polycythemia.
Josef T. Prchal, Josef T. Prchal, WM Crist, WM Crist, Jaroslav F. Prchal, Jaroslav F. Prchal, G Perrine, G Perrine, E Goldwasser, E Goldwasser   +9 more
openaire   +3 more sources

Autosomal dominant polycystic disease # [PDF]

Hepatology, 2009
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Pedrolli, Carlo, Cereda, Emanuele
openaire   +4 more sources

Autosomal dominant simple microphthalmos. [PDF]

Journal of Medical Genetics, 1994
Congenital bilateral microphthalmos is a rare malformation of the eye, which ranges from extreme to mild reduction of total axial length. Microphthalmos may occur as an isolated ocular abnormality or as part of a systemic disorder, and different classifications of the condition have been attempted.
Vingolo, E M, Steindl, Katharina, Forte, R, Zompatori, L, Iannaccone, A, Sciarra, A, Del Porto, G, Pannarale, M R   +7 more
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The Autosomal Dominant Dystonias

Brain Pathology, 1992
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders.
Stanley Fahn, Xandra O. Breakefield, Thomas Gasser   +2 more
openaire   +3 more sources

Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

Pediatric Neurology Briefs, 2008
Data from 24 previously published ADPEAF families with mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) were analyzed, in a study at Columbia University, New York.
J Gordon Millichap
doaj   +1 more source

HTRA1-related autosomal dominant cerebral small vessel disease

Chinese Medical Journal, 2021
. Background. Homozygous or compound heterozygous mutations in high temperature requirement serine peptidase A1 (HTRA1) gene are responsible for cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL ...
Jing-Yi Liu, Yi-Cheng Zhu, Li-Xin Zhou, Yan-Ping Wei, Chen-Hui Mao, Li-Ying Cui, Bin Peng, Ming Yao, Xin Chen   +8 more
doaj   +1 more source

Piebaldism: A brief report and review of the literature

Indian Dermatology Online Journal, 2012
Piebaldism is a rare autosomal dominant disorder of melanocyte development characterized by a congenital white forelock and multiple symmetrical stable hypopigmented or depigmented macules.
Saurabh Agarwal, Amit Ojha
doaj   +1 more source

CRISPR/Cas therapeutic strategies for autosomal dominant disorders

The Journal of Clinical Investigation, 2022
Autosomal dominant disorders present unique challenges, as therapeutics must often distinguish between healthy and diseased alleles while maintaining high efficiency, specificity, and safety.
Salvatore Marco Caruso, Peter M.J. Quinn, Bruna Lopes da Costa, Stephen H. Tsang   +3 more
doaj   +1 more source

Autosomal dominant polycystic kidney disease in Colombia

BMC Nephrology, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo, Camilo A González, Lina Herrera, Nancy Yomayusa-González, Milciades Ibañez, Ana M. Valbuena-García, Lizbeth Acuña-Merchán   +6 more
doaj   +1 more source