Volume 30; Issue 5

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Human Mutation
Volume 30; Issue 5

Human Mutation

Volume 30; Issue 5

1

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency

Sophie Monnot, Valérie Serre, Bernadette Chadefaux-Vekemans, Joelle Aupetit, Stéphane Romano, Pascale De Lonlay, Jean-Marie Rival, Arnold Munnich, Julie Steffann, Jean-Paul Bonnefont

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 452 KB

english, 2009

2

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, Eleonora Paradies, Matthias R. Baumgartner, Yin-Hsiu Chien, Carmela Loguercio, Helene Ogier de Baulny, Marie-Cecile Nassogne, Manuel Schiff, F

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 306 KB

english, 2009

3

Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

L. Tabatabaie, T.J. de Koning, A.J.J.M. Geboers, I.E.T. van den Berg, R. Berger, L.W.J. Klomp

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 384 KB

english, 2009

4

Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics

Sven Arnold, Daniel D. Buchanan, Melissa Barker, Lesley Jaskowski, Michael D. Walsh, Genevieve Birney, Michael O. Woods, John L. Hopper, Mark A. Jenkins, Melissa A. Brown, Sean V. Tavtigian, David E.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 268 KB

english, 2009

5

Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods

Janita Thusberg, Mauno Vihinen

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 367 KB

english, 2009

6

Detection of mosaic RB1 mutations in families with retinoblastoma

Diane Rushlow, Beata Piovesan, Katherine Zhang, Nadia L. Prigoda-Lee, Mellone N. Marchong, Robin D. Clark, Brenda L. Gallie

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 327 KB

english, 2009

7

Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome–Hirschsprung disease association

Stacey Arnold, Anna Pelet, Jeanne Amiel, Salud Borrego, Robert Hofstra, Paul Tam, Isabella Ceccherini, Stanislas Lyonnet, Stephanie Sherman, Aravinda Chakravarti

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 274 KB

english, 2009

8

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype–phenotype correlations in VHL patients

Gerlind Franke, Birke Bausch, Michael M. Hoffmann, Markus Cybulla, Christian Wilhelm, Jürgen Kohlhase, Gerd Scherer, Hartmut P.H. Neumann

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 945 KB

english, 2009

9

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes

Shweta Singh, Subramaniam Ganesh

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 208 KB

english, 2009

10

Functional properties of missense variants of human tryptophan hydroxylase 2

Jeffrey A. McKinney, Banu Turel, Ingeborg Winge, Per M. Knappskog, Jan Haavik

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 231 KB

english, 2009

11

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha, Ethylin Wang

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 248 KB

english, 2009

12

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

Ana I. Vega, Celia Pérez-Cerdá, Lourdes R. Desviat, Gert Matthijs, Magdalena Ugarte, Belén Pérez

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 314 KB

english, 2009

13

BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein

Raffaella Rossetti, Elisa Di Pasquale, Anna Marozzi, Silvia Bione, Daniela Toniolo, Paola Grammatico, Lawrence M. Nelson, Paolo Beck-Peccoz, Luca Persani

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 256 KB

english, 2009

14

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail

David Meili, Jana Kralovicova, Julian Zagalak, Luisa Bonafé, Laura Fiori, Nenad Blau, Beat Thöny, Igor Vorechovsky

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 480 KB

english, 2009

15

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients

Ana B. Pérez Oliva, Lara P. Fernéndez, Carlos DeTorre, Cecilia Herráiz, Jorge A. Martínez-Escribano, Javier Benítez, José A. Lozano Teruel, José C. García-Borrón, Celia Jiménez-Cervantes, Gloria Ribas

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 538 KB

english, 2009

16

Cytokines as genetic modifiers in K5–/– mice and in human epidermolysis bullosa simplex

Wera Roth, Ursula Reuter, Claudia Wohlenberg, Leena Bruckner-Tuderman, Thomas M. Magin

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 554 KB

english, 2009

17

Clinical Genetics & Human Genome Variation: The 2008 Human Genome Variation Society Scientific Meeting

William S. Oetting

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 128 KB

english, 2009

18

PORCN mutations in focal dermal hypoplasia: coping with lethality

Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Ra

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 348 KB

english, 2009

19

Genetic and Epigenetic Analysis of Recurrent Hydatidiform Mole

Bruce E. Hayward, Michel De Vos, Nargese Talati, M. Reza Abdollahi, Graham R. Taylor, Esther Meyer, Denise Williams, Eamonn R. Maher, Faridon Setna, Kausar Nazir, Shahnaz Hussaini, Hussain Jafri, Yasm

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 912 KB

english, 2009

20

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

Tianxiao Zhang, Rui Hua, Wei Xiao, Kathryn P. Burdon, Shomi S. Bhattacharya, Jamie E. Craig, Dandan Shang, Xiuli Zhao, David A. Mackey, Anthony T. Moore, Yang Luo, Jinsong Zhang, Xue Zhang

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 520 KB

english, 2009

21

Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B

Willemijn B. Breunis, Edwin van Mirre, Judy Geissler, Nadja Laddach, Gertjan Wolbink, Ellen van der Schoot, Masja de Haas, Martin de Boer, Dirk Roos, Taco W. Kuijpers

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 389 KB

english, 2009

22

The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland

John M. Darlow, Niamh H.N. Molloy, Andrew J. Green, Prem Puri, David E. Barton

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 119 KB

english, 2009

23

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship

Anne-Hélène Lebrun, Stephan Storch, Franz Rüschendorf, Mia-Lisa Schmiedt, Aija Kyttälä, Sara E. Mole, Claudia Kitzmüller, Kathrin Saar, Leena D. Mewasingh, Volker Boda, Alfried Kohlschütter, Kurt Ullr

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 390 KB

english, 2009

24

Identification and characterization of novel collagen VI non-canonical splicing mutations causing ullrich congenital muscular dystrophy

Elena Martoni, Anna Urciuolo, Patrizia Sabatelli, Marina Fabris, Matteo Bovolenta, Marcella Neri, Paolo Grumati, Adele D'Amico, Marika Pane, Eugenio Mercuri, Enrico Bertini, Luciano Merlini, Paolo Bon

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 598 KB

english, 2009

25

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, Jelena Martinovic-Bouriel, Francesco Danilo Tiziano, Lucia Masini, Francesca Piro, Giovanna Maragliano, Anne-

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 205 KB

english, 2009

26

Down Syndrome-Hirschsprung Linked through RET Enhancer

Stylianos Antonarakis

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 71 KB

english, 2009

27

Is That a Pathogenic Mutation, a Rare Non-pathogenic Variant, or Don't You Know?

Hamish S. Scott

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 71 KB

english, 2009