PMC Articles for MedGen (Select 1823966) - PMC

Select item 106906841.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Abstract Article PDF–4.6M

Select item 60741282.

The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani

Ann Saudi Med. 2015 Mar-Apr; 35(2): 170–172. doi: 10.5144/0256-4947.2015.170

PMCID:: PMC6074128

Abstract Article PDF–836K

Select item 38529263.

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, Stephen Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah J. Morris-Rosendahl, Sarah Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M.H. Abdel-Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, Duska J. Sidjanin

Am J Hum Genet. 2013 Dec 5; 93(6): 1001–1014. doi: 10.1016/j.ajhg.2013.10.011

PMCID:: PMC3852926

Abstract Article PDF–2.8M

Select item 19509154.

Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling

Mark O’Driscoll, William B. Dobyns, Johanna M. van Hagen, Penny A. Jeggo

Am J Hum Genet. 2007 Jul; 81(1): 77–86. Published online 2007 May 17. doi: 10.1086/518696

PMCID:: PMC1950915

Abstract Article PDF–424K

Select item 17346295.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

V. Cormier-Daire, M. Chauvet, S. Lyonnet, M. Briard, A. Munnich, M. Le Merrer

J Med Genet. 2000 Jul; 37(7): 520–524. doi: 10.1136/jmg.37.7.520

PMCID:: PMC1734629

Summary PDF–160K

Select item 12262126.

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Kym M. Boycott, Shauna Flavelle, Alexandre Bureau, Hannah C. Glass, T. Mary Fujiwara, Elaine Wirrell, Krista Davey, Albert E. Chudley, James N. Scott, D. Ross McLeod, Jillian S. Parboosingh

Am J Hum Genet. 2005 Sep; 77(3): 477–483. Published online 2005 Jul 22. doi: 10.1086/444400

PMCID:: PMC1226212

Abstract Article PDF–1.1M

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