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Select item 29555841.

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 49300902.

Novel genetic causes for cerebral visual impairment

Daniëlle GM Bosch, F Nienke Boonstra, Nicole de Leeuw, Rolph Pfundt, Willy M Nillesen, Joep de Ligt, Christian Gilissen, Shalini Jhangiani, James R Lupski, Frans PM Cremers, Bert BA de Vries

Eur J Hum Genet. 2016 May; 24(5): 660–665. Published online 2015 Sep 9. doi: 10.1038/ejhg.2015.186

PMCID:: PMC4930090

Abstract Article PDF–1.1M

Select item 45892073.

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Tahir Atik, Asuman Koparir, Guney Bademci, Joseph Foster, II, Umut Altunoglu, Gül Yesiltepe Mutlu, Sarah Bowdin, Nursel Elcioglu, Gulsen A. Tayfun, Sevinc Sahin Atik, Mustafa Ozen, Ferda Ozkinay, Yasemin Alanay, Hulya Kayserili, Steffen Thiel, Mustafa Tekin

Orphanet J Rare Dis. 2015; 10: 128. Published online 2015 Sep 30. doi: 10.1186/s13023-015-0345-3

PMCID:: PMC4589207

Abstract Article PDF–1.0M

Select item 43152904.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

Guntram Borck, Friederike Hög, Maria Lisa Dentici, Perciliz L. Tan, Nadine Sowada, Ana Medeira, Lucie Gueneau, Holger Thiele, Maria Kousi, Francesca Lepri, Larissa Wenzeck, Ian Blumenthal, Antonio Radicioni, Tito Livio Schwarzenberg, Barbara Mandriani, Rita Fischetto, Deborah J. Morris-Rosendahl, Janine Altmüller, Alexandre Reymond, Peter Nürnberg, Giuseppe Merla, Bruno Dallapiccola, Nicholas Katsanis, Patrick Cramer, Christian Kubisch

Genome Res. 2015 Feb; 25(2): 155–166. doi: 10.1101/gr.176925.114

Correction in:: Genome Res. 2015 Apr; 25(4): 609.

PMCID:: PMC4315290

Abstract Article PDF–1.1M

Select item 42587955.

A novel single base pair duplication in WDR62 causes primary microcephaly

Verena Rupp, Sobiah Rauf, Ishrat Naveed, Windpassinger Christian, Asif Mir

BMC Med Genet. 2014; 15: 107. Published online 2014 Oct 11. doi: 10.1186/s12881-014-0107-4

PMCID:: PMC4258795

Abstract Article PDF–2.4M

Select item 40154186.

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

Nagehan Ersoy Tunalı, Carlo M.T. Marobbio, N. Ozan Tiryakioğlu, Giuseppe Punzi, Seha K. Saygılı, Hasan Önal, Ferdinando Palmieri

Mol Genet Metab. 2014 May; 112(1): 25–29. doi: 10.1016/j.ymgme.2014.03.002

PMCID:: PMC4015418

Abstract Article

Select item 33764197.

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

Muzammil Ahmad Khan, Muhammad Arshad Rafiq, Abdul Noor, Shobbir Hussain, Joana V. Flores, Verena Rupp, Akshita K. Vincent, Roland Malli, Ghazanfar Ali, Falak Sher Khan, Gisele E. Ishak, Dan Doherty, Rosanna Weksberg, Muhammad Ayub, Christian Windpassinger, Shahnaz Ibrahim, Michaela Frye, Muhammad Ansar, John B. Vincent

Am J Hum Genet. 2012 May 4; 90(5): 856–863. doi: 10.1016/j.ajhg.2012.03.023

PMCID:: PMC3376419

Abstract Article PDF–807K

Select item 33145548.

Nijmegen breakage syndrome (NBS)

Krystyna H Chrzanowska, Hanna Gregorek, Bożenna Dembowska-Bagińska, Maria A Kalina, Martin Digweed

Orphanet J Rare Dis. 2012; 7: 13. Published online 2012 Feb 28. doi: 10.1186/1750-1172-7-13

PMCID:: PMC3314554

Abstract Article PDF–1.3M

Select item 33092059.

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 319815310.

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 308360611.

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 1057947912.

Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

Maria Justel, Cristina Jou, Andrea Sariego-Jamardo, Natalia Alexandra Juliá-Palacios, Carlos Ortez, Maria Luisa Poch, Antonio Hedrera-Fernandez, Hilario Gomez-Martin, Anna Codina, Jana Dominguez-Carral, Jordi Muxart, Aurelio Hernández-Laín, Sara Vila-Bedmar, Miren Zulaica, Ramon Cancho-Candela, Margarita del Carmen Castro, Alberto de la Osa-Langreo, Alfonso Peña-Valenceja, Elena Marcos-Vadillo, Pablo Prieto-Matos, Samuel Ignacio Pascual-Pascual, Adolfo López de Munain, Ana Camacho, Berta Estevez-Arias, Uliana Musokhranova, Mireia Olivella, Alfonso Oyarzábal, Cecilia Jimenez-Mallebrera, Cristina Domínguez-González, Andrés Nascimento, Àngels García-Cazorla, Daniel Natera-de Benito

J Med Genet. 2023 Oct; 60(10): 965–973. Published online 2023 May 16. doi: 10.1136/jmg-2022-109132

PMCID:: PMC10579479

Abstract Article PDF–3.1M

Select item 291394113.

Joubert Syndrome and related disorders

Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente

Orphanet J Rare Dis. 2010; 5: 20. Published online 2010 Jul 8. doi: 10.1186/1750-1172-5-20

PMCID:: PMC2913941

Abstract Article PDF–1.5M

Select item 279580014.

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 256452715.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

W Seifert, M Holder‐Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn

J Med Genet. 2006 May; 43(5): e22. doi: 10.1136/jmg.2005.039867

PMCID:: PMC2564527

Abstract Article PDF–1.0M

Select item 118201116.

The NPHP1 Gene Deletion Associated with Juvenile Nephronophthisis Is Present in a Subset of Individuals with Joubert Syndrome

Melissa A. Parisi, Craig L. Bennett, Melissa L. Eckert, William B. Dobyns, Joseph G. Gleeson, Dennis W. W. Shaw, Ruth McDonald, Allison Eddy, Phillip F. Chance, Ian A. Glass

Am J Hum Genet. 2004 Jul; 75(1): 82–91. Published online 2004 May 11. doi: 10.1086/421846