Results 11 to 20 of about 178,919 (265)

Dual Monogenic Cystic Disease Case Report: Autosomal Dominant Polycystic Kidney Disease and Autosomal Dominant Polycystic Liver Disease [PDF]

Clinical Case Reports
Autosomal dominant polycystic kidney disease (ADPKD) and autosomal dominant polycystic liver disease (ADPLD) are inherited cystic conditions with overlapping features but distinct genetic causes and clinical courses.
Anna Katya Brossart, Kathryn Curry, Sumit Punj, Tarek Darwish, Hossein Tabriziani   +4 more
doaj   +2 more sources

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

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.
J T, Prchal, W M, Crist, E, Goldwasser, G, Perrine, J F, Prchal   +4 more
openaire   +2 more sources

Robinow Syndrome: A Rare Diagnosis [PDF]

Journal of Clinical and Diagnostic Research, 2015
Robinow syndrome is a rare entity characterized by short stature and abnormalities of the head, face and external genitalia. It is otherwise called ‘fetal face syndrome’ due to its resemblance with fetal face.
Shubhankar Mishra, Sunil Kumar Agarwalla, Swayanprava Pradhan   +2 more
doaj   +1 more source

Zebrafish Models of Autosomal Dominant Ataxias

Cells, 2021
Hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

Autosomal dominant polycystic disease # [PDF]

Hepatology, 2009
n ...
Pedrolli, Carlo, Cereda, Emanuele
openaire   +3 more sources

Autosomal Dominant Partial Epilepsies

Pediatric Neurology Briefs, 2000
The clinical, electrophysiologic, and genetic characteristics of autosomal dominant partial epilepsy were studied in 71 patients and 33 non-epileptic at-risk family members in 19 European families followed at the Hopital Universitaire de Geneve ...
J Gordon Millichap
doaj   +1 more source

Autosomal Dominant Alternating Hemiplegia

Pediatric Neurology Briefs, 1993
The familial occurrence and autosomal dominant inheritance of alternating hemiplegia of childhood is reported from Children’s Hospital, and Massachusetts General Hospital, Harvard Medical School, Boston.
J Gordon Millichap
doaj   +1 more source

Steatocystoma Multiplex-A Rare Genetic Disorder: A Case Report and Review of the Literature [PDF]

Journal of Clinical and Diagnostic Research, 2013
A 17 years old female presented with multiple asymptomatic cutaneous cysts all over body, sparing the head and neck region. The microscopic examination of the cysts showed the features of steatocystoma multiplex.
Hemlata T. Kamra, Pradeep A. Gadgil, Ajay G. Ovhal, Rahul R. Narkhede   +3 more
doaj   +1 more source

Autosomal Dominant Juvenile Amyotrophic LS

Pediatric Neurology Briefs, 1999
The clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile amyotrophic lateral sclerosis (ALS) are reported from Johns Hopkins ...
J Gordon Millichap
doaj   +1 more source