PMC Articles for MedGen (Select 946264) - PMC

Select item 104175911.

Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis

Mauricio Bayram-Suverza, Karla Alejandra Torres-Navarro, Ángeles Yahel Hernández-Vázquez, Juan Abel Ramírez-Estudillo

Diagnostics (Basel) 2023 Aug; 13(15): 2588. Published online 2023 Aug 3. doi: 10.3390/diagnostics13152588

PMCID:: PMC10417591

Select item 76452002.

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

Maria F. Shurygina, Joseph M. Simonett, Maria A. Parker, Amanda Mitchell, Florin Grigorian, Jacob Lifton, Aaron Nagiel, Alexander A. Shpak, Elena L. Dadali, Irina A. Mishina, Richard G. Weleber, Paul Yang, Mark E. Pennesi

Invest Ophthalmol Vis Sci. 2020 Nov; 61(13): 2. Published online 2020 Nov 2. doi: 10.1167/iovs.61.13.2

PMCID:: PMC7645200

Article PDF–8.0M

Select item 51179223.

Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy

Makiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, Masafumi Miyata, Mitsuhiro Kato, Nobuhiko Okamoto, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Shinji Saitoh, Hiroki Kurahashi

Eur J Hum Genet. 2016 Dec; 24(12): 1702–1706. Published online 2016 Sep 21. doi: 10.1038/ejhg.2016.119

PMCID:: PMC5117922

Article PDF–1.2M

Select item 44641204.

No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy JL de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard, Miikka Vikkula

Orphanet J Rare Dis. 2015; 10: 52. Published online 2015 May 2. doi: 10.1186/s13023-015-0271-4

PMCID:: PMC4464120

Article PDF–1.6M

Select item 43851815.

Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

Sophie Scheidecker, Christelle Etard, Laurence Haren, Corinne Stoetzel, Sarah Hull, Gavin Arno, Vincent Plagnol, Séverine Drunat, Sandrine Passemard, Annick Toutain, Cathy Obringer, Mériam Koob, Véronique Geoffroy, Vincent Marion, Uwe Strähle, Pia Ostergaard, Alain Verloes, Andreas Merdes, Anthony T. Moore, Hélène Dollfus

Am J Hum Genet. 2015 Apr 2; 96(4): 666–674. doi: 10.1016/j.ajhg.2015.02.011

PMCID:: PMC4385181

Article PDF–1.5M

Select item 42052006.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Ghayda M. Mirzaa, Laura Enyedi, Gretchen Parsons, Sarah Collins, Livija Medne, Carissa Adams, Thomas Ward, Bradley Davitt, Alma Bicknese, Elaine Zackai, Helga Toriello, William B. Dobyns, Susan Christian

Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Am J Med Genet A. 2014 Nov; 164(11): 2879–2886. Published online 2014 Aug 12. doi: 10.1002/ajmg.a.36707

Correction in:: Am J Med Genet A. 2015 Nov 14 : 10.1002/ajmg.a.37449.

PMCID:: PMC4205200

Article PDF–598K

Select item 32766607.

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Ostergaard, Michael A. Simpson, Antonella Mendola, Pradeep Vasudevan, Fiona C. Connell, Andreas van Impel, Anthony T. Moore, Bart L. Loeys, Arash Ghalamkarpour, Alexandros Onoufriadis, Ines Martinez-Corral, Sophie Devery, Jules G. Leroy, Lut van Laer, Amihood Singer, Martin G. Bialer, Meriel McEntagart, Oliver Quarrell, Glen Brice, Richard C. Trembath, Stefan Schulte-Merker, Taija Makinen, Miikka Vikkula, Peter S. Mortimer, Sahar Mansour, Steve Jeffery

Am J Hum Genet. 2012 Feb 10; 90(2): 356–362. doi: 10.1016/j.ajhg.2011.12.018

PMCID:: PMC3276660

Article PDF–362K

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