Results 231 to 240 of about 1,639,589 (408)

Familial 22q11.2 deletion syndrome with autosomal dominant inheritance

Cukurova Medical Journal, 2016
22q11.2 deletion syndrome is the most frequent microdeletion syndrome in humans and caused by hemizygote deletion on only one chromosome. Most of probands have a de novo deletion of 22q11.2, but 8-20% have inherited the 22q11.2 deletion from a parent ...
Bahar Göktürk, İsmail Reisli, Mahmut Gökdemir, Mahmut Yıldırım   +3 more
doaj  

Uncombable hair: A condition with autosomal dominant inheritance

, 1982
Ben Zion Garty, A Metzker, Marc Mimouni, I. Varsano   +3 more
openalex   +1 more source

Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. [PDF]

, 1990
Stanley Hawkins, N. C. Nevin, A E Harding   +2 more
openalex   +1 more source

A Family With Factor VII Deficiency: A Possible Autosomal Dominant Transmission. [PDF]

Cureus
Song Z, Garcia S, Nandhagopal T, Kim S.
europepmc   +1 more source

Autosomal dominant polycystic kidney disease. [PDF]

, 1993
John C. Lieske, F. Gary Toback
openalex   +1 more source

Sex differences in the clinical manifestation of autosomal dominant frontotemporal dementia. [PDF]

Alzheimers Dement
Memel M, Staffaroni AM, Ilan-Gala I, Castro JG, Kornak J, Tartaglia CM, Saloner R, VandeBunte AM, Paolillo EW, Cadwallader CJ, Chen C, Gorno-Tempini ML, Mandelli M, Apostolova L, Graff-Radford N, Litvan I, Bayram E, Pressman PS, Miyagawa T, Mackenzie I, Goldman J, Darby RR, Appleby BS, Petrucelli L, Gendron T, Heuer HW, Forseberg LK, Rojas JC, Boeve BF, Brushaber N, Domoto-Reilly K, Ghoshal N, Lapid M, Pascual B, Lee S, Ramos EM, Ramanan V, Rademakers R, Rascovsky K, Pantelyat A, Masdeu JC, Snyder A, Boxer AL, Rosen HJ, Casaletto K, ALLFTD Consortium.   +45 more
europepmc   +1 more source

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Journal of Clinical Endocrinology and Metabolism, 2017
A. Gkourogianni, M. Andrew, Leah Tyzinski, Melissa K. Crocker, J. Douglas, N. Dunbar, J. Fairchild, M. Funari, K. Heath, A. Jorge, T. Kurtzman, S. Lafranchi, S. Lalani, J. Lebl, Yuezhen Lin, Evan Los, Dorothee Newbern, C. Nowak, Micah L Olson, J. Popovic, Š. Průhová, Lenka Elblová, J. Quintos, Emma Segerlund, L. Sentchordi, M. Shinawi, Eva-Lena Stattin, J. Swartz, A. Ángel, Sinhué Diaz Cuéllar, Hidekazu Hosono, P. Sanchez-Lara, V. Hwa, J. Baron, O. Nilsson, A. Dauber   +35 more
semanticscholar   +1 more source

MECP2 duplication syndrome—Typical EEG characteristics

Epileptic Disorders, EarlyView.
Walter Otu, Ritu Sudhakaran, German Garza‐Garcia, Krishna Parekh, Irfan S. Sheikh   +4 more
wiley   +1 more source

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. [PDF]

, 1992
Marcelle Jay, Alan C. Bird, A N Moore, Barrie Jay   +3 more
openalex   +1 more source

Navigating the treatment landscape of Alzheimer's disease: Current strategies and future directions

Ibrain, EarlyView.
Alzheimer's disease treatment is evolving rapidly, with emerging strategies targeting multiple disease pathways. This graphical abstract highlights the shift from traditional therapies to innovative approaches that hold promise for improving outcomes.
Tapas Kumar Mohapatra, Reena Rani Nayak, Ankit Ganeshpurkar, Prashant Tiwari, Dileep Kumar   +4 more
wiley   +1 more source