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Select item 29873691.

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

Julie Désir, Yves Sznajer, Fanny Depasse, Françoise Roulez, Marc Schrooyen, Françoise Meire, Marc Abramowicz

Eur J Hum Genet. 2010 Jul; 18(7): 761–767. Published online 2010 Feb 24. doi: 10.1038/ejhg.2010.11

PMCID:: PMC2987369

Abstract Article PDF–473K

Select item 38630992.

Oral health management of a patient with 47,XYY syndrome

Altaf Hussain Shah, B S Manjunatha, Naif A Bindayel, Rita Khounganian

BMJ Case Rep. 2013; 2013: bcr2013010408. Published online 2013 Dec 5. doi: 10.1136/bcr-2013-010408

PMCID:: PMC3863099

Abstract Article PDF–945K

Select item 36082573.

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient

Cristina Meazza, Ekkehard Lausch, Sara Pagani, Elena Bozzola, Valeria Calcaterra, Andrea Superti-Furga, Margherita Silengo, Mauro Bozzola

Ital J Pediatr. 2013; 39: 21. Published online 2013 Mar 21. doi: 10.1186/1824-7288-39-21

PMCID:: PMC3608257

Abstract Article PDF–2.7M

Select item 33302224.

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloes, Brigitte Benzacken, Catalina Betancur

Eur J Hum Genet. 2012 May; 20(5): 540–546. Published online 2012 Jan 11. doi: 10.1038/ejhg.2011.244

Correction in:: Eur J Hum Genet. 2012 May; 20(5): 594.

PMCID:: PMC3330222

Abstract Article PDF–533K

Select item 32820715.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R Perdeaux, Sheila Seal, Chey Loveday, Siddharth Banka, Carol Clericuzio, Frances Flinter, Alex Magee, Vivienne McConnell, Michael Patton, Wolfgang Raith, Julia Rankin, Miranda Splitt, Volker Strenger, Clare Taylor, Patricia Wheeler, I Karen Temple, Trevor Cole, The Childhood Overgrowth Collaboration, Jenny Douglas, Nazneen Rahman

Oncotarget. 2011 Dec; 2(12): 1127–1133. Published online 2011 Dec 21. doi: 10.18632/oncotarget.385

Correction in:: Oncotarget. 2018 Nov 30; 9(94): 36719.

PMCID:: PMC3282071

Abstract Article PDF–2.3M

Select item 32522776.

Microenvironmental Regulation by Fibrillin-1

Gerhard Sengle, Ko Tsutsui, Douglas R. Keene, Sara F. Tufa, Eric J. Carlson, Noe L. Charbonneau, Robert N. Ono, Takako Sasaki, Mary K. Wirtz, John R. Samples, Liselotte I. Fessler, John H. Fessler, Kiyotoshi Sekiguchi, Susan J. Hayflick, Lynn Y. Sakai

PLoS Genet. 2012 Jan; 8(1): e1002425. Published online 2012 Jan 5. doi: 10.1371/journal.pgen.1002425

PMCID:: PMC3252277

Abstract Article PDF–3.1M

Select item 31793597.

Genotype–phenotype correlations in patients with retinoblastoma and interstitial 13q deletions

Diana Mitter, Reinhard Ullmann, Artur Muradyan, Ludger Klein-Hitpaß, Deniz Kanber, Katrin Õunap, Marc Kaulisch, Dietmar Lohmann

Eur J Hum Genet. 2011 Sep; 19(9): 947–958. Published online 2011 Apr 20. doi: 10.1038/ejhg.2011.58

PMCID:: PMC3179359

Abstract Article PDF–900K

Select item 31358008.

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

Carine Le Goff, Clémentine Mahaut, Lauren W. Wang, Slimane Allali, Avinash Abhyankar, Sacha Jensen, Louise Zylberberg, Gwenaelle Collod-Beroud, Damien Bonnet, Yasemin Alanay, Angela F. Brady, Marie-Pierre Cordier, Koen Devriendt, David Genevieve, Pelin Özlem Simsek Kiper, Hiroshi Kitoh, Deborah Krakow, Sally Ann Lynch, Martine Le Merrer, André Mégarbane, Geert Mortier, Sylvie Odent, Michel Polak, Marianne Rohrbach, David Sillence, Irene Stolte-Dijkstra, Andrea Superti-Furga, David L. Rimoin, Vicken Topouchian, Sheila Unger, Bernhard Zabel, Christine Bole-Feysot, Patrick Nitschke, Penny Handford, Jean-Laurent Casanova, Catherine Boileau, Suneel S. Apte, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2011 Jul 15; 89(1): 7–14. doi: 10.1016/j.ajhg.2011.05.012

PMCID:: PMC3135800

Abstract Article PDF–783K

Select item 30564969.

A New Look at XXYY Syndrome: Medical and Psychological Features

Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen, Randi Hagerman

Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 14.

Published in final edited form as: Am J Med Genet A. 2008 Jun 15; 146A(12): 1509–1522. doi: 10.1002/ajmg.a.32366

PMCID:: PMC3056496

Abstract Article PDF–725K

Select item 408670510.

A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report

Harry Pachajoa, Felipe Ruiz-Botero, Carolina Isaza

J Med Case Rep. 2014; 8: 191. Published online 2014 Jun 13. doi: 10.1186/1752-1947-8-191

PMCID:: PMC4086705

Abstract Article PDF–805K

Select item 288396311.

A review of trisomy X (47,XXX)

Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson, Lennie Wilson

Orphanet J Rare Dis. 2010; 5: 8. Published online 2010 May 11. doi: 10.1186/1750-1172-5-8

PMCID:: PMC2883963

Abstract Article PDF–820K

Select item 279331212.

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

María Berdasco, Santiago Ropero, Fernando Setien, Mario F. Fraga, Pablo Lapunzina, Régine Losson, Miguel Alaminos, Nai-Kong Cheung, Nazneen Rahman, Manel Esteller

Proc Natl Acad Sci U S A. 2009 Dec 22; 106(51): 21830–21835. Published online 2009 Dec 14. doi: 10.1073/pnas.0906831106

PMCID:: PMC2793312

Abstract Article PDF–1.7M

Select item 259799613.

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Charles E Schwartz, Patrick S Tarpey, Herbert A Lubs, Alain Verloes, Melanie M May, Hiba Risheg, Michael J Friez, P Andrew Futreal, Sarah Edkins, Jon Teague, Sylvain Briault, Cindy Skinner, Astrid Bauer‐Carlin, Richard J Simensen, Sumy M Joseph, Julie R Jones, Josef Gecz, Michael R Stratton, F Lucy Raymond, Roger E Stevenson

J Med Genet. 2007 Jul; 44(7): 472–477. Published online 2007 Mar 16. doi: 10.1136/jmg.2006.048637

PMCID:: PMC2597996

Abstract Article PDF–326K

Select item 258295714.

Startling Mosaicism of the Y-Chromosome and Tandem Duplication of the SRY and DAZ Genes in Patients with Turner Syndrome

Sanjay Premi, Jyoti Srivastava, Ganesan Panneer, Sher Ali

PLoS One. 2008; 3(11): e3796. Published online 2008 Nov 24. doi: 10.1371/journal.pone.0003796

PMCID:: PMC2582957

Abstract Article PDF–1.0M

Select item 169856615.

A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Reha M. Toydemir, Anna E. Brassington, Pınar Bayrak-Toydemir, Patrycja A. Krakowiak, Lynn B. Jorde, Frank G. Whitby, Nicola Longo, David H. Viskochil, John C. Carey, Michael J. Bamshad

Am J Hum Genet. 2006 Nov; 79(5): 935–941. Published online 2006 Sep 26. doi: 10.1086/508433