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Select item 30836061.

Homozygosity mapping in outbred families with mental retardation

Janneke H M Schuurs-Hoeijmakers, Jayne Y Hehir-Kwa, Rolph Pfundt, Bregje W M van Bon, Nicole de Leeuw, Tjitske Kleefstra, Michèl A Willemsen, Ad Geurts van Kessel, Han G Brunner, Joris A Veltman, Hans van Bokhoven, Arjan P M de Brouwer, Bert B A de Vries

Eur J Hum Genet. 2011 May; 19(5): 597–601. Published online 2011 Jan 19. doi: 10.1038/ejhg.2010.167

PMCID:: PMC3083606

Abstract Article PDF–424K

Select item 31981532.

Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity

R Abou Jamra, Sigrun Wohlfart, Markus Zweier, Steffen Uebe, Lutz Priebe, Arif Ekici, Susanne Giesebrecht, Ahmad Abboud, Mohammed Ayman Al Khateeb, Mahmoud Fakher, Saber Hamdan, Amina Ismael, Safia Muhammad, Markus M Nöthen, Johannes Schumacher, André Reis

Eur J Hum Genet. 2011 Nov; 19(11): 1161–1166. Published online 2011 Jun 1. doi: 10.1038/ejhg.2011.98

PMCID:: PMC3198153

Abstract Article PDF–414K

Select item 37338183.

Possible association between common variants of the phenylalanine hydroxylase (PAH) gene and memory performance in healthy adults

Toshiya Teraishi, Daimei Sasayama, Hiroaki Hori, Noriko Yamamoto, Takashi Fujii, Junko Matsuo, Anna Nagashima, Yukiko Kinoshita, Kotaro Hattori, Miho Ota, Sayaka Fujii, Hiroshi Kunugi

Behav Brain Funct. 2013; 9: 30. Published online 2013 Jul 30. doi: 10.1186/1744-9081-9-30

PMCID:: PMC3733818

Abstract Article PDF–392K

Select item 29555844.

Acro-cardio-facial syndrome

Maria Cristina Digilio, Bruno Dallapiccola

Orphanet J Rare Dis. 2010; 5: 25. Published online 2010 Sep 29. doi: 10.1186/1750-1172-5-25

PMCID:: PMC2955584

Abstract Article PDF–337K

Select item 31358085.

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Muhammad Arshad Rafiq, Andreas W. Kuss, Lucia Puettmann, Abdul Noor, Annapoorani Ramiah, Ghazanfar Ali, Hao Hu, Nadir Ali Kerio, Yong Xiang, Masoud Garshasbi, Muzammil Ahmad Khan, Gisele E. Ishak, Rosanna Weksberg, Reinhard Ullmann, Andreas Tzschach, Kimia Kahrizi, Khalid Mahmood, Farooq Naeem, Muhammad Ayub, Kelley W. Moremen, John B. Vincent, Hans Hilger Ropers, Muhammad Ansar, Hossein Najmabadi

Am J Hum Genet. 2011 Jul 15; 89(1): 176–182. doi: 10.1016/j.ajhg.2011.06.006

Correction in:: Am J Hum Genet. 2011 Aug 12; 89(2): 348.

PMCID:: PMC3135808

Abstract Article PDF–860K

Select item 31504036.

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, Xinshun Zhang, Yu Wang, Wenjuan Qiu, Jun Ye, Lianshu Han, Xiaolan Gao, Xuefan Gu

PLoS One. 2011; 6(8): e22951. Published online 2011 Aug 4. doi: 10.1371/journal.pone.0022951

PMCID:: PMC3150403

Abstract Article PDF–726K

Select item 31723117.

Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome

Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

PLoS One. 2011; 6(9): e24925. Published online 2011 Sep 13. doi: 10.1371/journal.pone.0024925

PMCID:: PMC3172311

Abstract Article PDF–773K

Select item 32345028.

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions

Kaja K Selmer, Gregor D Gilfillan, Petter Strømme, Robert Lyle, Timothy Hughes, Hanne S Hjorthaug, Kristin Brandal, Sigve Nakken, Doriana Misceo, Thore Egeland, Ludvig A Munthe, Sigrun K Braekken, Dag E Undlien

Eur J Hum Genet. 2012 Jan; 20(1): 58–63. Published online 2011 Jun 29. doi: 10.1038/ejhg.2011.126

PMCID:: PMC3234502

Abstract Article PDF–419K

Select item 33073149.

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

Yoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, Peter M. Krawitz, Stefan Mundlos, Peter N. Robinson, Anastasios Karadimitris, Yusuke Maeda, Taroh Kinoshita

J Biol Chem. 2012 Feb 24; 287(9): 6318–6325. Published online 2012 Jan 6. doi: 10.1074/jbc.M111.331090

PMCID:: PMC3307314

Abstract Article PDF–2.2M

Select item 330920510.

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer, Arif B. Ekici, Sabine Endele, Bernt Popp, Christiane Zweier, Antje Wiesener, Eva Wohlleber, Andreas Dufke, Eva Rossier, Corinna Petsch, Markus Zweier, Ina Göhring, Alexander M. Zink, Gudrun Rappold, Evelin Schröck, Dagmar Wieczorek, Olaf Riess, Hartmut Engels, Anita Rauch, André Reis

Am J Hum Genet. 2012 Mar 9; 90(3): 565–572. doi: 10.1016/j.ajhg.2012.02.007

PMCID:: PMC3309205

Abstract Article PDF–704K

Select item 337648511.

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika Anna Noegel, Peter Nürnberg

Am J Hum Genet. 2012 May 4; 90(5): 871–878. doi: 10.1016/j.ajhg.2012.03.016

PMCID:: PMC3376485

Abstract Article PDF–1.2M

Select item 349573512.

New kid on the ID block: Neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins

Seth M. Kelly, ChangHui Pak, Masoud Garshasbi, Andreas Kuss, Anita H. Corbett, Kenneth H. Moberg

RNA Biol. 2012 May 1; 9(5): 555–562. doi: 10.4161/rna.20187

PMCID:: PMC3495735

Abstract Article PDF–927K

Select item 350195913.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

J Med Genet. Author manuscript; available in PMC 2012 Nov 20.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249

PMCID:: PMC3501959

Abstract Article PDF–1.1M

Select item 359937714.

A possible cranio-oro-facial phenotype in Cockayne syndrome

Agnès Bloch-Zupan, Morgan Rousseaux, Virginie Laugel, Matthieu Schmittbuhl, Rémy Mathis, Emmanuelle Desforges, Mériam Koob, Ariane Zaloszyc, Hélène Dollfus, Vincent Laugel

Orphanet J Rare Dis. 2013; 8: 9. Published online 2013 Jan 14. doi: 10.1186/1750-1172-8-9

PMCID:: PMC3599377

Abstract Article PDF–3.0M

Select item 361676515.

Whole-Exome Sequencing Identifies Compound Heterozygous Mutations in WDR62 in Siblings With Recurrent Polymicrogyria

David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs, Melissa B. Ramocki

Am J Med Genet A. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Am J Med Genet A. 2011 Sep; 0(9): 2071–2077. Published online 2011 Aug 10. doi: 10.1002/ajmg.a.34165

PMCID:: PMC3616765

Abstract Article PDF–1.4M

Select item 371075316.

Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia

Amir Boukhris, Rebecca Schule, José L. Loureiro, Charles Marques Lourenço, Emeline Mundwiller, Michael A. Gonzalez, Perrine Charles, Julie Gauthier, Imen Rekik, Rafael F. Acosta Lebrigio, Marion Gaussen, Fiorella Speziani, Andreas Ferbert, Imed Feki, Andrés Caballero-Oteyza, Alexandre Dionne-Laporte, Mohamed Amri, Anne Noreau, Sylvie Forlani, Vitor T. Cruz, Fanny Mochel, Paula Coutinho, Patrick Dion, Chokri Mhiri, Ludger Schols, Jean Pouget, Frédéric Darios, Guy A. Rouleau, Wilson Marques, Jr., Alexis Brice, Alexandra Durr, Stephan Zuchner, Giovanni Stevanin

Am J Hum Genet. 2013 Jul 11; 93(1): 118–123. doi: 10.1016/j.ajhg.2013.05.006

PMCID:: PMC3710753

Abstract Article PDF–1.4M

Select item 279580017.

Combination of Linkage Mapping and Microarray-Expression Analysis Identifies NF-κB Signaling Defect as a Cause of Autosomal-Recessive Mental Retardation

Orianne Philippe, Marlène Rio, Astrid Carioux, Jean-Marc Plaza, Philippe Guigue, Florence Molinari, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschke, Asma Smahi, Arnold Munnich, Laurence Colleaux

Am J Hum Genet. 2009 Dec 11; 85(6): 903–908. doi: 10.1016/j.ajhg.2009.11.007

PMCID:: PMC2795800

Abstract Article PDF–483K

Select item 375705118.

A Recessive Founder Mutation in Regulator of Telomere Elongation Helicase 1, RTEL1, Underlies Severe Immunodeficiency and Features of Hoyeraal Hreidarsson Syndrome

Bari J. Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A. Schrader, Trudy N. Small, Richard O'Reilly, Chris Manschreck, Megan M. Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P. Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J. Boulton, Sharon A. Savage, John H. J. Petrini

PLoS Genet. 2013 Aug; 9(8): e1003695. Published online 2013 Aug 29. doi: 10.1371/journal.pgen.1003695

PMCID:: PMC3757051

Abstract Article PDF–1.4M

Select item 389344319.

Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

Yuichi Riku, Takeshi Ikeuchi, Hiroyo Yoshino, Maya Mimuro, Kazuo Mano, Yoji Goto, Nobutaka Hattori, Gen Sobue, Mari Yoshida

Acta Neuropathol Commun. 2013; 1: 12. Published online 2013 May 9. doi: 10.1186/2051-5960-1-12

PMCID:: PMC3893443

Abstract Article PDF–2.0M

Select item 397969720.

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

Doroteya Raykova, Joakim Klar, Aysha Azhar, Tahir Naeem Khan, Naveed Altaf Malik, Muhammad Iqbal, Muhammad Tariq, Shahid Mahmood Baig, Niklas Dahl

PLoS One. 2014; 9(4): e93607. Published online 2014 Apr 8. doi: 10.1371/journal.pone.0093607

PMCID:: PMC3979697

Abstract Article PDF–706K

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