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Select item 35892701.

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

Xiao-Fei Kong, Aziz Bousfiha, Abdelfettah Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean-Laurent Casanova, Jennifer Hirst, Stéphanie Boisson-Dupuis

PLoS One. 2013; 8(3): e58286. Published online 2013 Mar 5. doi: 10.1371/journal.pone.0058286

PMCID:: PMC3589270

Abstract Article PDF–1.2M

Select item 27905762.

A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly

Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel-Vanagaite, Danielle Gleason, R. Sean Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh

Am J Hum Genet. 2009 Dec 11; 85(6): 897–902. doi: 10.1016/j.ajhg.2009.10.027

PMCID:: PMC2790576

Abstract Article PDF–1.0M

Select item 30106963.

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

Mohammed Al-Owain, Namik Kaya, Hamad Al-Zaidan, Ibrahim Bin Hussain, Hadeel Al-Manea, Hindi Al-Hindi, Shelley Kennedy, M. Anwar Iqbal, Hamad Al-Mojalli, Albandary Al-Bakheet, Anne Puel, Jean-Laurent Casanova, Saleh Al-Muhsen

Clin Dev Immunol. 2010; 2010: 586342. Published online 2010 Dec 14. doi: 10.1155/2010/586342

PMCID:: PMC3010696

Abstract Article PDF–7.8M

Select item 30140254.

Molecular Basis of Decreased Kir4.1 Function in SeSAME/EAST Syndrome

David M. Williams, Coeli M.B. Lopes, Avia Rosenhouse-Dantsker, Heather L. Connelly, Alessandra Matavel, Jin O-Uchi, Elena McBeath, Daniel A. Gray

J Am Soc Nephrol. 2010 Dec; 21(12): 2117–2129. doi: 10.1681/ASN.2009121227

PMCID:: PMC3014025

Abstract Article

Select item 30174665.

Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping

Heather M. Harville, Susanne Held, Anna Diaz-Font, Erica E. Davis, Bill H. Diplas, Richard A. Lewis, Zvi Borochowitz, Weibin Zhou, Moumita Chaki, Jim MacDonald, Hulya Kayserili, Philip L. Beales, Nicholas Katsanis, Edgar Otto, Friedhelm Hildebrandt

J Med Genet. Author manuscript; available in PMC 2011 Jan 7.

Published in final edited form as: J Med Genet. 2010 Apr; 47(4): 262–267. Published online 2009 Sep 24. doi: 10.1136/jmg.2009.071365

PMCID:: PMC3017466

Abstract Article PDF–383K

Select item 30507906.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

Mustafa A Salih, Khaled K Abu-Amero, Saleh Alrasheed, Ibrahim A Alorainy, Lu Liu, John A McGrath, Lionel Van Maldergem, Yasser H Al-Fakey, Adel H AlSuhaibani, Darren T Oystreck, Thomas M Bosley

BMC Med Genet. 2011; 12: 31. Published online 2011 Feb 24. doi: 10.1186/1471-2350-12-31

PMCID:: PMC3050790

Abstract Article PDF–834K

Select item 30969097.

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Nadir Ali, Ghazanfar Ali, John B Vincent, Muhammad Ansar

BMC Med Genet. 2011; 12: 56. Published online 2011 Apr 22. doi: 10.1186/1471-2350-12-56

PMCID:: PMC3096909

Abstract Article PDF–1.5M

Select item 31358088.

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 31845189.

3M Syndrome: A Report of Four Cases in Two Families

Ayla Güven, Ayşe Nurcan Cebeci

J Clin Res Pediatr Endocrinol. 2011 Sep; 3(3): 154–159. Published online 2011 Aug 9. doi: 10.4274/jcrpe.v3i3.30

PMCID:: PMC3184518

Abstract Article PDF–181K

Select item 319676310.

Large Contiguous Gene Deletions in Sjögren-Larsson Syndrome

Holly Engelstad, Gael Carney, Dana S'Aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Christopher W. Carr, Omar A. Abdul-Rahman, William B. Rizzo

Mol Genet Metab. Author manuscript; available in PMC 2012 Nov 1.

Published in final edited form as: Mol Genet Metab. 2011 Nov; 104(3): 356–361. Published online 2011 May 30. doi: 10.1016/j.ymgme.2011.05.015

PMCID:: PMC3196763

Abstract Article PDF–876K

Select item 319815311.

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 334508212.

The Long and the Short of It: The Role of the Zinc Finger Polyadenosine RNA binding Protein, Nab2, in Control of Poly(A) Tail Length

Sharon Soucek, Anita H. Corbett, Milo B. Fasken

Biochim Biophys Acta. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Biochim Biophys Acta. 2012 Jun; 1819(6): 546–554. Published online 2012 Mar 28. doi: 10.1016/j.bbagrm.2012.03.006

PMCID:: PMC3345082

Abstract Article PDF–1.5M

Select item 335173913.

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine Ioos, Leila Lazaro, Sylvie Joriot, Isabelle Desguerre, Didier Lacombe, Vincent des Portes, Enrico Bertini, Jean-Pierre Siffroi, Thierry Billette de Villemeur, Diana Rodriguez

Orphanet J Rare Dis. 2012; 7: 18. Published online 2012 Mar 27. doi: 10.1186/1750-1172-7-18

PMCID:: PMC3351739

Abstract Article PDF–1.4M

Select item 336395714.

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A Walsh, M Chiara Manzini, Giovanni Neri

Am J Med Genet A. 2012 Apr; 158A(4): 888–893. Published online 2012 Mar 14. doi: 10.1002/ajmg.a.35254

PMCID:: PMC3363957

Abstract Article PDF–413K

Select item 349573515.

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 356522116.

Genetics and biology of microcephaly and lissencephaly

Ganeshwaran H. Mochida

Semin Pediatr Neurol. Author manuscript; available in PMC 2013 Feb 6.

Published in final edited form as: Semin Pediatr Neurol. 2009 Sep; 16(3): 120–126. doi: 10.1016/j.spen.2009.07.001

PMCID:: PMC3565221

Abstract Article PDF–1.0M

Select item 277265317.

Cockayne Syndrome in Adults: Review With Clinical and Pathologic Study of a New Case

Isabelle Rapin, Karen Weidenheim, Yelena Lindenbaum, Pearl Rosenbaum, Saumil N. Merchant, Sindu Krishna, Dennis W. Dickson

J Child Neurol. Author manuscript; available in PMC 2009 Nov 3.

Published in final edited form as: J Child Neurol. 2006 Nov; 21(11): 991–1006. doi: 10.1177/08830738060210110101

PMCID:: PMC2772653

Abstract Article PDF–4.0M

Select item 372799218.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Abstract Article PDF–1.7M

Select item 384611719.

Molecular analysis of a consanguineous Iranian polycystic kidney disease family identifies a PKD2 mutation that aids diagnostics

Reza Vazifehmand, Sandro Rossetti, Sassan Saber, Hamid Reza Khorram Khorshid, Peter C Harris

BMC Nephrol. 2013; 14: 190. Published online 2013 Sep 8. doi: 10.1186/1471-2369-14-190

PMCID:: PMC3846117

Abstract Article PDF–367K

Select item 385577220.

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Michelle Falcone, Kemal O. Yariz, David B. Ross, Joseph Foster, II, Ibis Menendez, Mustafa Tekin

PLoS One. 2013; 8(12): e82810. Published online 2013 Dec 6. doi: 10.1371/journal.pone.0082810

PMCID:: PMC3855772

Abstract Article PDF–541K

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