PMC Links for Nucleotide (Select 1519316106) - PMC

Select item 63328621.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

BMC Med Genet. 2019; 20: 16. Published online 2019 Jan 14. doi: 10.1186/s12881-019-0745-7

PMCID:: PMC6332862

Abstract Article PDF–1.6M

Select item 55374152.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

J Hum Genet. 2017 Aug; 62(8): 741–746. Published online 2017 Mar 2. doi: 10.1038/jhg.2017.24

PMCID:: PMC5537415

Abstract Article PDF–769K

Select item 55374113.

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Tadashi Kaname, Kumiko Yanagi

J Hum Genet. 2017 Aug; 62(8): 739–740. Published online 2017 Jun 1. doi: 10.1038/jhg.2017.58

PMCID:: PMC5537411

Article PDF–63K

Select item 55331984.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi

Eur J Hum Genet. 2017 Jun; 25(6): 694–701. Published online 2017 Apr 19. doi: 10.1038/ejhg.2017.49

PMCID:: PMC5533198

Abstract Article PDF–760K

Select item 51110055.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

Select item 29872616.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, Erica Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, Stephen W Scherer, Christian R Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

Eur J Hum Genet. 2010 Apr; 18(4): 429–435. Published online 2009 Nov 18. doi: 10.1038/ejhg.2009.192

PMCID:: PMC2987261

Abstract Article PDF–428K

Select item 19504747.

Characterization of Transcriptional Regulatory Domains of Ankyrin Repeat Cofactor-1

Aihua Zhang, Chia-Wei Li, J. Don Chen

Biochem Biophys Res Commun. Author manuscript; available in PMC 2008 Jul 13.

Published in final edited form as: Biochem Biophys Res Commun. 2007 Jul 13; 358(4): 1034–1040. Published online 2007 May 11. doi: 10.1016/j.bbrc.2007.05.017

PMCID:: PMC1950474

Abstract Article PDF–860K

Select item 69003818.

A heterozygous point mutation of the ANKRD11 (c.2579C>T) in a Chinese patient with idiopathic short stature

Yabin Kang, Dongye He, Yanying Li, Yanhong Zhang, Qian Shao, Mei Zhang, Bo Ban

Mol Genet Genomic Med. 2019 Dec; 7(12): e988. Published online 2019 Sep 30. doi: 10.1002/mgg3.988

PMCID:: PMC6900381

Abstract Article PDF–1.3M

Select item 68365509.

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M. B. Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii-Hemming, Erik Iwarsson, Maria Johansson-Soller, Kristina Lagerstedt-Robinson, Agne Lieden, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

Genome Med. 2019; 11: 68. Published online 2019 Nov 7. doi: 10.1186/s13073-019-0675-1

PMCID:: PMC6836550

Abstract Article PDF–2.5M

Select item 668652610.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder

Arnold Munnich, Caroline Demily, Lisa Frugère, Charlyne Duwime, Valérie Malan, Giulia Barcia, Céline Vidal, Emeline Throo, Claude Besmond, Laurence Hubert, Gilles Roland-Manuel, Jean-Pierre Malen, Mélanie Ferreri, Sylvain Hanein, Jean-Christophe Thalabard, Nathalie Boddaert, Moïse Assouline

Mol Autism. 2019; 10: 33. Published online 2019 Aug 7. doi: 10.1186/s13229-019-0284-2