Volume 29; Issue 1

Main
Human Mutation
Volume 29; Issue 1

Human Mutation

Volume 29; Issue 1

1

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

Birgit Köhler, Lin Lin, Bruno Ferraz-de-Souza, Peter Wieacker, Peter Heidemann, Vanessa Schröder, Heike Biebermann, Dirk Schnabel, Annette Grüters, John C. Achermann

Journal:

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

2

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene

Maria Pia Sperandeo, Generoso Andria, Gianfranco Sebastio

Journal:

Year:

2008

Language:

english

File:

PDF, 265 KB

english, 2008

3

Does the nonsense-mediated mRNA decay mechanism prevent the synthesis of truncated BRCA1, CHK2, and p53 proteins?

Olga Anczuków, Mark D. Ware, Monique Buisson, Almoutassem B. Zetoune, Dominique Stoppa-Lyonnet, Olga M. Sinilnikova, Sylvie Mazoyer

Journal:

Year:

2008

Language:

english

File:

PDF, 373 KB

english, 2008

4

Representational oligonucleotide microarray analysis (ROMA) and comparison of binning and change-point methods of analysis: application to detection of del22q11.2 (DiGeorge) Syndrome

Christopher M. Stanczak, Zugen Chen, Stanley F. Nelson, Marc Suchard, Edward R.B. McCabe, Sean McGhee

Journal:

Year:

2008

Language:

english

File:

PDF, 384 KB

english, 2008

5

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)

M. Upadhyaya, Lan Kluwe, G. Spurlock, Bisma Monem, E. Majounie, K. Mantripragada, Martino Ruggieri, N. Chuzhanova, D.G. Evans, R. Ferner, N. Thomas, A. Guha, V. Mautner

Journal:

Year:

2008

Language:

english

File:

PDF, 364 KB

english, 2008

6

A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2

Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud

Journal:

Year:

2008

Language:

english

File:

PDF, 476 KB

english, 2008

7

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome

Audrey McAlinden, Marja Majava, Paul N. Bishop, Rahat Perveen, Graeme CM. Black, Mary Ella Pierpont, Leena Ala-Kokko, Minna Männikkö

Journal:

Year:

2008

Language:

english

File:

PDF, 316 KB

english, 2008

8

Identification of the first germline mutation in the extracellular domain of the follitropin receptor responsible for spontaneous ovarian hyperstimulation syndrome

Anne De Leener, Gianluigi Caltabiano, Sanly Erkan, Mehmet Idil, Gilbert Vassart, Leonardo Pardo, Sabine Costagliola

Journal:

Year:

2008

Language:

english

File:

PDF, 508 KB

english, 2008

9

Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene

Manuel C. Lemos, Rajesh V. Thakker

Journal:

Year:

2008

Language:

english

File:

PDF, 300 KB

english, 2008

10

Characterization of the interactions of human ZIC3 mutants with GLI3

Lirong Zhu, Guisheng Zhou, Suzanne Poole, John W. Belmont

Journal:

Year:

2008

Language:

english

File:

PDF, 335 KB

english, 2008

11

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons

Simone Schimpf, Nico Fuhrmann, Simone Schaich, Bernd Wissinger

Journal:

Year:

2008

Language:

english

File:

PDF, 311 KB

english, 2008

12

Multiplex PCR-based real-time invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions

Naoya Hosono, Michiaki Kubo, Yumiko Tsuchiya, Hiroko Sato, Takuya Kitamoto, Susumu Saito, Yozo Ohnishi, Yusuke Nakamura

Journal:

Year:

2008

Language:

english

File:

PDF, 605 KB

english, 2008

13

A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer

Zhongning Lin, Xuemei Zhang, Jingsheng Tuo, Yongli Guo, Bridgett Green, Chi-Chao Chan, Wen Tan, Ying Huang, Wenhua Ling, Fred F. Kadlubar, Dongxin Lin, Baitang Ning

Journal:

Year:

2008

Language:

english

File:

PDF, 300 KB

english, 2008

14

Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients

Fanyi Zeng, Zhao-Rui Ren, Shang-Zhi Huang, Margot Kalf, Monique Mommersteeg, Maarten Smit, Stefan White, Chun-Lian Jin, Miao Xu, Da-Wen Zhou, Jing-Bin Yan, Mei-Jue Chen, Rinie van Beuningen, Shu-Zhen

Journal:

Year:

2008

Language:

english

File:

PDF, 511 KB

english, 2008

15

Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle, Marijke N. Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek, Peter Nürnberg

Journal:

Year:

2008

Language:

english

File:

PDF, 328 KB

english, 2008

16

Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene

Diana Rubin, Alexandra Schneider-Muntau, Maja Klapper, Inke Nitz, Ulf Helwig, Ulrich R. Fölsch, Jürgen Schrezenmeir, Frank Döring

Journal:

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

17

An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss

Michel Guipponi, Min-Yen Toh, Justin Tan, Daeho Park, Kelly Hanson, Ester Ballana, David Kwong, Ping Z.F. Cannon, Qingyu Wu, Alex Gout, Mauro Delorenzi, Terence P. Speed, Richard J.H. Smith, Henrik H.

Journal:

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

18

Type 2 diabetes-associated fatty acid binding protein 2 promoter haplotypes are differentially regulated by GATA factors

Maja Klapper, Mike Böhme, Inke Nitz, Frank Döring

Journal:

Year:

2008

Language:

english

File:

PDF, 391 KB

english, 2008

19

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

B.L. Callewaert, A. Willaert, W.S. Kerstjens-Frederikse, J. De Backer, K. Devriendt, B. Albrecht, M.A. Ramos-Arroyo, M. Doco-Fenzy, R.C.M. Hennekam, R.E. Pyeritz, O.N. Krogmann, G. Gillessen-kaesbach,

Journal:

Year:

2008

Language:

english

File:

PDF, 405 KB

english, 2008

20

Genetic subtyping of Fanconi anemia by comprehensive mutation screening

Najim Ameziane, Abdellatif Errami, France Léveillé, Chantal Fontaine, Yne de Vries, Rosalina M.L. van Spaendonk, Johan P. de Winter, Gerard Pals, Hans Joenje

Journal:

Year:

2008

Language:

english

File:

PDF, 292 KB

english, 2008

21

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans

Emidio Capriotti, Leonardo Arbiza, Rita Casadio, Joaquín Dopazo, Hernán Dopazo, Marc A. Marti-Renom

Journal:

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

22

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

23

GPCR NaVa database: natural variants in human G protein-coupled receptors

Jeroen Kazius, Kerstin Wurdinger, Maarten van Iterson, Joost Kok, Thomas Bäck, Ad P. IJzerman

Journal:

Year:

2008

Language:

english

File:

PDF, 313 KB

english, 2008

24

Recommendations for locus-specific databases and their curation

R.G.H. Cotton, A.D. Auerbach, J.S. Beckmann, O.O. Blumenfeld, A.J. Brookes, A.F. Brown, P. Carrera, D.W. Cox, B. Gottlieb, M.S. Greenblatt, P. Hilbert, H. Lehvaslaiho, P. Liang, S. Marsh, D.W. Nebert,

Journal:

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

25

Progranulin locus deletion in frontotemporal dementia

I. Gijselinck, J. van der Zee, S. Engelborghs, D. Goossens, K. Peeters, M. Mattheijssens, E. Corsmit, J. Del-Favero, P.P. De Deyn, C. Van Broeckhoven, M. Cruts

Journal:

Year:

2008

Language:

english

File:

PDF, 374 KB

english, 2008

26

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen, Peter E.M. Taschner

Journal:

Year:

2008

Language:

english

File:

PDF, 376 KB

english, 2008

27

A new cover and new challenges for Human Mutation

Garry R. Cutting, Richard G.H. Cotton

Journal:

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

28

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

Olivier M. Vanakker, Bart P. Leroy, Paul Coucke, Lionel G. Bercovitch, Jouni Uitto, Dennis Viljoen, Sharon F. Terry, Petra Van Acker, Dirk Matthys, Bart Loeys, Anne De Paepe

Journal:

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

29

Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

Lars Schlotawa, Robert Steinfeld, Kurt von Figura, Thomas Dierks, Jutta Gärtner

Journal:

Year:

2008

Language:

english

File:

PDF, 1.55 MB

english, 2008

30

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome

Sara Parodi, Tiziana Bachetti, Francesca Lantieri, Marco Di Duca, Giuseppe Santamaria, Giancarlo Ottonello, Ivana Matera, Roberto Ravazzolo, Isabella Ceccherini

Journal:

Year:

2008

Language:

english

File:

PDF, 191 KB

english, 2008

31

An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, Estelle Cadet, Karine Foulon, Christine Fourcade, Michel Goossens, David Andrew Case, Jacques Rochette

Journal:

Year:

2008

Language:

english

File:

PDF, 596 KB

english, 2008

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски