PMC Articles for MedGen (Select 333982) - PMC

Select item 45196811.

Association of mutations in FLNA with craniosynostosis

Nathalie Fennell, Nicola Foulds, Diana S Johnson, Louise C Wilson, Michelle Wyatt, Stephen P Robertson, David Johnson, Steven A Wall, Andrew OM Wilkie

Eur J Hum Genet. 2015 Dec; 23(12): 1684–1688. Published online 2015 Apr 15. doi: 10.1038/ejhg.2015.31

PMCID:: PMC4519681

Abstract Article PDF–877K

Select item 40153522.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Johanna Christina Czeschik, Peter Bauer, Karin Buiting, Claudia Dufke, Encarna Guillén-Navarro, Diana S Johnson, Udo Koehler, Vanesa López-González, Hermann-Josef Lüdecke, Alison Male, Deborah Morrogh, Angelika Rieß, Andreas Tzschach, Dagmar Wieczorek, Alma Kuechler

Orphanet J Rare Dis. 2013; 8: 146. Published online 2013 Sep 21. doi: 10.1186/1750-1172-8-146

PMCID:: PMC4015352

Abstract Article PDF–1.8M

Select item 36754383.

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Tuva Barøy, Doriana Misceo, Petter Strømme, Asbjørg Stray-Pedersen, Asbjørn Holmgren, Olaug Kristin Rødningen, Anne Blomhoff, Johan Robert Helle, Alice Stormyr, Bjørn Tvedt, Madeleine Fannemel, Eirik Frengen

Orphanet J Rare Dis. 2013; 8: 3. Published online 2013 Jan 7. doi: 10.1186/1750-1172-8-3

PMCID:: PMC3675438

Abstract Article PDF–3.4M

Select item 12881004.

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

Vandana Shashi, Margaret N. Berry, Sarah Shoaf, James J. Sciote, Donald Goldstein, Thomas C. Hart

Am J Hum Genet. 2000 Feb; 66(2): 469–479. Published online 2000 Feb 9. doi: 10.1086/302772

Correction in:: Am J Hum Genet. 2000 Apr; 66(4): 1472.

PMCID:: PMC1288100

Abstract Article PDF–474K

Select item 11963825.

Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

Kenneth E. White, Jose M. Cabral, Siobhan I. Davis, Tonya Fishburn, Wayne E. Evans, Shoji Ichikawa, Joanna Fields, Xijie Yu, Nick J. Shaw, Neil J. McLellan, Carole McKeown, David FitzPatrick, Kai Yu, David M. Ornitz, Michael J. Econs

Am J Hum Genet. 2005 Feb; 76(2): 361–367. Published online 2004 Dec 28. doi: 10.1086/427956

PMCID:: PMC1196382

Abstract Article PDF–296K

Select item 10512856.

Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.

J P Fryns, C Van Lingen, K Devriendt, E Legius, P Raus

J Med Genet. 1998 Apr; 35(4): 333–335. doi: 10.1136/jmg.35.4.333

PMCID:: PMC1051285

Summary Page Browse PDF–928K

Select item 106209447.

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, François Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P.A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Müller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian

Genet Med. 2023 Jan; 25(1): 135–142. doi: 10.1016/j.gim.2022.09.016