Results 1 to 10 of about 308,350 (333)

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

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

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

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

SPG10 is a rare cause of spastic paraplegia in European families [PDF]

, 2008
Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport.
Auer-Grumbach, M., Boesch, S., Kassubek, J., Klimpe, S., Klopstock, Thomas, Kostic, V., Kremer, B.P.H., Otto, S., Schöls, L., Schüle, R., van de Warrenburg, B.P.   +10 more
core   +6 more sources

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 polycystic disease # [PDF]

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

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]

, 2019
Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M, Houlden, H, Kaiyrzhanov, R, Maroofian, R, Salehi, M, Salpietro, V   +5 more
core   +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

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 ...
Billingsley, G., Graw, Jochen, Heon, E., Illig, T., Klopp, N., Rudolph, G., Wjst, M.   +6 more
core   +1 more source