Results 21 to 30 of about 207,744 (307)

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

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.   +7 more
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Autosomal dominant polycystic disease # [PDF]

Hepatology, 2009
n ...
Pedrolli, Carlo, Cereda, Emanuele
openaire   +3 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 kidney disease in hemodialysis patients in southern Brazil [PDF]

, 2014
INTRODUCTION: Autosomal dominant polycystic kidney disease is the most common hereditary renal disease in humans. OBJECTIVE: To examine the prevalence, clinical and laboratory characteristics of patients with polycystic kidneys and relate disease ...
Torres, Paulo Roberto Aranha, Tsuneto, Luiza Tamie, Silva, Letícia Nicoletti, Carvalho, Maria Dalva de Barros, Sandra Marisa Pelloso, Luiza Tamie Tsuneto, Obregon, José Miguel Viscarra, Everton Fernando Alves, Guido Luis Gomes Otto, Maria Dalva de Barros Carvalho, Pelloso, Sandra Marisa, Silva, Adaelson Alves, Paulo Roberto Aranha Torres, Adaelson Alves Silva, Jose Miguel Viscarra Obregon, Leticia Nicoletti Silva, Alves, Everton Fernando, Otto, Guido Luis Gomes   +17 more
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Urinary proteomic biomarkers for diagnosis and risk stratification of autosomal dominant polycystic kidney disease: a multicentric study [PDF]

, 2013
Treatment options for autosomal dominant polycystic kidney disease (ADPKD) will likely become available in the near future, hence reliable diagnostic and prognostic biomarkers for the disease are strongly needed.
Torres, Vicente E., Poster, D., Andreas D. Kistler, Fabienne Krauer, Kistler Andreas D., Grantham, J.J., Serra, AL, Grantham, Jared J, James E. Bost, Mischak Harald, Bost, J.E., Bost James E., Arlene B Chapman, Chapman, AB, Mrug, M., Wüthrich Rudolf P., Grantham Jared J., Justyna Siwy (103595), Andreas L. Serra (103592), Arlene B. Chapman (103480), Diane Poster (36083), Justyna Siwy, Poster Diane, Bost, James E., Rudolf P. Wüthrich (103623), Krauer, F., Torres, V.E., Mischak, Harald, Serra Andreas L., Wüthrich, Rudolf P, Wüthrich, RP, Kyongtae T. Bae, Bae, KT, James E. Bost (103618), Kistler, AD, Poster, Diane, Siwy, J., Michal Mrug (103606), Grantham, JJ, Bae, Kyongtae T., Serra, Andreas L, Grantham, Jared J., Vicente E. Torres, Torres Vicente E., Mullen, W., Chapman, Arlene B., Bae, Kyongtae T, Fabienne Krauer (103598), Bae, K.T., Bost, James E, Chapman Arlene B., Jared J Grantham, Mullen, W, Vicente E. Torres (103602), Mullen, William, Mrug, M, Andreas D Kistler, Kyongtae T Bae, Siwy, Justyna, Krauer, F, Mischak, H., Mrug, Michal, Wüthrich, Rudolf P., Torres, Vicente E, Andreas L Serra, Harald Mischak (103627), Jared J. Grantham (103610), Krauer, Fabienne, Bost, JE, Rudolf P. Wüthrich, Mrug Michal, Diane Poster, Wuethrich, Rudolf P., Serra, Andreas L., Serra, A.L., William Mullen (103621), William Mullen, Chapman, A.B., Vicente E Torres, Chapman, Arlene B, James E Bost, Mischak, H, Jared J. Grantham, Siwy Justyna, Andreas L. Serra, Kyongtae T. Bae (103614), Wüthrich, R.P., Michal Mrug, Kistler, Andreas D., Poster, D, Krauer Fabienne, Siwy, J, Mullen William, Kistler, A.D., Harald Mischak, Arlene B. Chapman, Torres, VE, Andreas D. Kistler (103588), Bae Kyongtae T., Bae, Kyong Tae, Rudolf P Wüthrich, Kistler, Andreas D   +101 more
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Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy [PDF]

, 2010
Background: Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different ...
Alexander Christiane, Schimpf Simone, Bernd Wissinger, Zrenner, Eberhart, Alavi, M.V., Schimpf, Simone, Auburger Georg, Zrenner, E., Zrenner Eberhart, Schimpf, S., Alavi-Khorassani Moghadam, Marcel Victor, Auburger, Georg, Leo-Kottler, Beate, Marcel V Alavi, Wissinger, Bernd, Christiane Alexander, Nico Fuhrmann, Wissinger, B., Fuhrmann Nico, Beate Leo-Kottler, Alexander, Christiane, Kamenisch, York, Fuhrmann, Nico, Kamenisch, Y., Wissinger Bernd, Auburger, G., Simone Schimpf, Eberhart Zrenner, Georg Auburger, Kamenisch York, York Kamenisch, Alexander, C., Leo-Kottler, B., Leo-Kottler Beate, Alavi Marcel V, Fuhrmann, N.   +35 more
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SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Frontiers in Medicine, 2021
The small nuclear ribonucleoprotein 200 kDa (SNRNP200) gene plays a key role in the maturation of pre-message RNA (pre-mRNA) splicing with the indication for the etiology of retinitis pigmentosa (RP).
Tao Zhang, Tao Zhang, Jingshan Bai, Jingshan Bai, Xinyi Zhang, Xinyi Zhang, Xiaowei Zheng, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Ling Lin, Yongsong Chen, Yongsong Chen   +13 more
doaj   +1 more source

CADASIL: A monogenic condition causing stroke and subcortical vascular dementia [PDF]

, 2002
Mutations in Notch3 are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited small vessel disease leading to subcortical strokes and vascular dementia. The phenotypic presentation
Dichgans, Martin
core   +1 more source