Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 1

Results: 34

Reply to Townsend et al.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 7, doi. 10.1038/ejhg.2013.95
By:
- Ayuso, Carmen;
- Millán, José M;
- Mancheño, Marta;
- Dal-Ré, Rafael
Publication type:
Article
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 99, doi. 10.1038/ejhg.2013.72
By:
- Glöckle, Nicola;
- Kohl, Susanne;
- Mohr, Julia;
- Scheurenbrand, Tim;
- Sprecher, Andrea;
- Weisschuh, Nicole;
- Bernd, Antje;
- Rudolph, Günther;
- Schubach, Max;
- Poloschek, Charlotte;
- Zrenner, Eberhart;
- Biskup, Saskia;
- Berger, Wolfgang;
- Wissinger, Bernd;
- Neidhardt, John
Publication type:
Article
Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 126, doi. 10.1038/ejhg.2013.69
By:
- Larson, Nicholas B;
- Jenkins, Gregory D;
- Larson, Melissa C;
- Vierkant, Robert A;
- Sellers, Thomas A;
- Phelan, Catherine M;
- Schildkraut, Joellen M;
- Sutphen, Rebecca;
- Pharoah, Paul P D;
- Gayther, Simon A;
- Wentzensen, Nicolas;
- Goode, Ellen L;
- Fridley, Brooke L
Publication type:
Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
By:
- Wiszniewska, Joanna;
- Bi, Weimin;
- Shaw, Chad;
- Stankiewicz, Pawel;
- Kang, Sung-Hae L;
- Pursley, Amber N;
- Lalani, Seema;
- Hixson, Patricia;
- Gambin, Tomasz;
- Tsai, Chun-hui;
- Bock, Hans-Georg;
- Descartes, Maria;
- Probst, Frank J;
- Scaglia, Fernando;
- Beaudet, Arthur L;
- Lupski, James R;
- Eng, Christine;
- Wai Cheung, Sau;
- Bacino, Carlos;
- Patel, Ankita
Publication type:
Article
Rare copy number variation in cerebral palsy.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
By:
- McMichael, Gai;
- Girirajan, Santhosh;
- Moreno-De-Luca, Andres;
- Gecz, Jozef;
- Shard, Chloe;
- Nguyen, Lam Son;
- Nicholl, Jillian;
- Gibson, Catherine;
- Haan, Eric;
- Eichler, Evan;
- Martin, Christa Lese;
- MacLennan, Alastair
Publication type:
Article
Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 3, doi. 10.1038/ejhg.2013.176
By:
- Knoppers, Bartha Maria;
- Avard, Denise;
- Sénécal, Karine;
- Bredenoord, Annelien L;
- Hall, Alison;
- Hens, Kristien;
- Pinxten, Wim;
- Wallace, Susan;
- Parry, David;
- Wright Clayton, Ellen
Publication type:
Article
CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 46, doi. 10.1038/ejhg.2013.85
By:
- Huijts, Petra EA;
- Hollestelle, Antoinette;
- Balliu, Brunilda;
- Houwing-Duistermaat, Jeanine J;
- Meijers, Caro M;
- Blom, Jannet C;
- Ozturk, Bahar;
- Krol-Warmerdam, Elly MM;
- Wijnen, Juul;
- Berns, Els MJJ;
- Martens, John WM;
- Seynaeve, Caroline;
- Kiemeney, Lambertus A;
- van der Heijden, Henricus F;
- Tollenaar, Rob AEM;
- Devilee, Peter;
- van Asperen, Christi J
Publication type:
Article
A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 140, doi. 10.1038/ejhg.2013.87
By:
- Sanyoura, May;
- Woudstra, Cédric;
- Halaby, George;
- Baz, Patrick;
- Senée, Valérie;
- Guillausseau, Pierre-Jean;
- Zalloua, Pierre;
- Julier, Cécile
Publication type:
Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
By:
- Corsini, Carole;
- Gencik, Martin;
- Willems, Marjolaine;
- Decker, Eva;
- Sanchez, Elodie;
- Puechberty, Jacques;
- Schneider, Anouck;
- Girard, Manon;
- Edery, Patrick;
- Bretonnes, Patricia;
- Cottalorda, Jérôme;
- Lefort, Geneviève;
- Jeandel, Claire;
- Sarda, Pierre;
- Genevieve, David
Publication type:
Article
The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 94, doi. 10.1038/ejhg.2013.78
By:
- Veeramah, Krishna R;
- Karafet, Tatiana M;
- Wolf, Daniel;
- Samson, Ricardo A;
- Hammer, Michael F
Publication type:
Article
Return of whole-genome sequencing results in paediatric research: a statement of the P3G international paediatrics platform.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 153, doi. 10.1038/ejhg.2013.225
By:
- Knoppers, Bartha Maria;
- Avard, Denise;
- Sénécal, Karine
Publication type:
Article
Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 1, doi. 10.1038/ejhg.2013.55
By:
- Napolitano, Carlo;
- Bloise, Raffaella;
- Memmi, Mirella;
- Priori, Silvia Giuliana
Publication type:
Article
S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 119, doi. 10.1038/ejhg.2013.97
By:
- Rutschow, Désirée;
- Bauer, Ralf;
- Göhringer, Caroline;
- Bekeredjian, Raffi;
- Schinkel, Stefanie;
- Straub, Volker;
- Koenen, Michael;
- Weichenhan, Dieter;
- Katus, Hugo A;
- Müller, Oliver J
Publication type:
Article
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98
By:
- Vincent, Marie;
- Collet, Corinne;
- Verloes, Alain;
- Lambert, Laetitia;
- Herlin, Christian;
- Blanchet, Catherine;
- Sanchez, Elodie;
- Drunat, Séverine;
- Vigneron, Jacqueline;
- Laplanche, Jean-Louis;
- Puechberty, Jacques;
- Sarda, Pierre;
- Geneviève, David
Publication type:
Article
Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 110, doi. 10.1038/ejhg.2013.82
By:
- Wei, Xiaoming;
- Dai, Yi;
- Yu, Ping;
- Qu, Ning;
- Lan, Zhangzhang;
- Hong, Xiafei;
- Sun, Yan;
- Yang, Guanghui;
- Xie, Shuqi;
- Shi, Quan;
- Zhou, Hanlin;
- Zhu, Qian;
- Chu, Yuxing;
- Yao, Fengxia;
- Wang, Jinming;
- He, Jingni;
- Yang, Yun;
- Liang, Yu;
- Yang, Yi;
- Qi, Ming
Publication type:
Article
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 64, doi. 10.1038/ejhg.2013.101
By:
- Fusco, Carmela;
- Micale, Lucia;
- Augello, Bartolomeo;
- Teresa Pellico, Maria;
- Menghini, Deny;
- Alfieri, Paolo;
- Cristina Digilio, Maria;
- Mandriani, Barbara;
- Carella, Massimo;
- Palumbo, Orazio;
- Vicari, Stefano;
- Merla, Giuseppe
Publication type:
Article
A modified two-stage approach for family-based genome-wide association studies.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 148, doi. 10.1038/ejhg.2013.105
By:
- Ma, Weijun;
- Zhou, Ying;
- Zhou, Yajing;
- Chen, Lili;
- Gu, Zhen
Publication type:
Article
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 18, doi. 10.1038/ejhg.2013.102
By:
- Bourke, Elyssia;
- Snow, Pamela;
- Herlihy, Amy;
- Amor, David;
- Metcalfe, Sylvia
Publication type:
Article
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
By:
- Mullegama, Sureni V;
- Rosenfeld, Jill A;
- Orellana, Carmen;
- van Bon, Bregje W M;
- Halbach, Sara;
- Repnikova, Elena A;
- Brick, Lauren;
- Li, Chumei;
- Dupuis, Lucie;
- Rosello, Monica;
- Aradhya, Swaroop;
- Stavropoulos, D James;
- Manickam, Kandamurugu;
- Mitchell, Elyse;
- Hodge, Jennelle C;
- Talkowski, Michael E;
- Gusella, James F;
- Keller, Kory;
- Zonana, Jonathan;
- Schwartz, Stuart
Publication type:
Article
Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 105, doi. 10.1038/ejhg.2013.99
By:
- Polan, Michelle B;
- Pastore, Matthew T;
- Steingass, Katherine;
- Hashimoto, Sayaka;
- Thrush, Devon L;
- Pyatt, Robert;
- Reshmi, Shalini;
- Gastier-Foster, Julie M;
- Astbury, Caroline;
- McBride, Kim L
Publication type:
Article
Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 25, doi. 10.1038/ejhg.2013.172
By:
- Rogowski, Wolf H;
- Grosse, Scott D;
- Schmidtke, Jörg;
- Marckmann, Georg
Publication type:
Article
Inconsistent inheritance of telomere length (TL): is offspring TL more strongly correlated with maternal or paternal TL?
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 8, doi. 10.1038/ejhg.2013.202
By:
- Eisenberg, Dan T A
Publication type:
Article
A non-genetic, epigenetic-like mechanism of telomere length inheritance?
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 10, doi. 10.1038/ejhg.2013.255
By:
- De Meyer, Tim;
- Vandepitte, Katrien;
- Denil, Simon;
- De Buyzere, Marc L;
- Rietzschel, Ernst R;
- Bekaert, Sofie
Publication type:
Article
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 12, doi. 10.1038/ejhg.2013.90
By:
- Cornel, Martina C;
- Rigter, Tessel;
- Weinreich, Stephanie S;
- Burgard, Peter;
- Hoffmann, Georg F;
- Lindner, Martin;
- Gerard Loeber, J;
- Rupp, Kathrin;
- Taruscio, Domenica;
- Vittozzi, Luciano
Publication type:
Article
Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 6, doi. 10.1038/ejhg.2013.94
By:
- Townsend, Anne;
- Rousseau, Francois;
- Friedman, Jan;
- Adam, Shelin;
- Lohn, Zoe;
- Birch, Patricia
Publication type:
Article
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 88, doi. 10.1038/ejhg.2013.81
By:
- Ormondroyd, Elizabeth;
- Oates, Stephanie;
- Parker, Michael;
- Blair, Edward;
- Watkins, Hugh
Publication type:
Article
Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 144, doi. 10.1038/ejhg.2013.96
By:
- Ramos, Erin M;
- Hoffman, Douglas;
- Junkins, Heather A;
- Maglott, Donna;
- Phan, Lon;
- Sherry, Stephen T;
- Feolo, Mike;
- Hindorff, Lucia A
Publication type:
Article
Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 1, doi. 10.1038/ejhg.2013.170
By:
- Skirton, Heather
Publication type:
Article
SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 154, doi. 10.1038/ejhg.2013.218
By:
- Meirelles, Osorio D;
- Ding, Jun;
- Tanaka, Toshiko;
- Sanna, Serena;
- Yang, Hsih-Te;
- Dudekula, Dawood B;
- Cucca, Francesco;
- Ferrucci, Luigi;
- Abecasis, Goncalo;
- Schlessinger, David
Publication type:
Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
By:
- Nava, Caroline;
- Keren, Boris;
- Mignot, Cyril;
- Rastetter, Agnès;
- Chantot-Bastaraud, Sandra;
- Faudet, Anne;
- Fonteneau, Eric;
- Amiet, Claire;
- Laurent, Claudine;
- Jacquette, Aurélia;
- Whalen, Sandra;
- Afenjar, Alexandra;
- Périsse, Didier;
- Doummar, Diane;
- Dorison, Nathalie;
- Leboyer, Marion;
- Siffroi, Jean-Pierre;
- Cohen, David;
- Brice, Alexis;
- Héron, Delphine
Publication type:
Article
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 32, doi. 10.1038/ejhg.2013.80
By:
- Pantaleo, Maria A;
- Astolfi, Annalisa;
- Urbini, Milena;
- Nannini, Margherita;
- Paterini, Paola;
- Indio, Valentina;
- Saponara, Maristella;
- Formica, Serena;
- Ceccarelli, Claudio;
- Casadio, Rita;
- Rossi, Giulio;
- Bertolini, Federica;
- Santini, Donatella;
- Pirini, Maria G;
- Fiorentino, Michelangelo;
- Basso, Umberto;
- Biasco, Guido
Publication type:
Article
In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 153, doi. 10.1038/ejhg.2013.224
By:
- Castellanos, Elisabeth;
- Rosas, Imma;
- Solanes, Ares;
- Bielsa, Isabel;
- Lázaro, Conxi;
- Carrato, Cristina;
- Hostalot, Cristina;
- Prades, Pepe;
- Roca-Ribas, Francesc;
- Blanco, Ignacio
Publication type:
Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 132, doi. 10.1038/ejhg.2013.76
By:
- Poulter, James A;
- El-Sayed, Walid;
- Shore, Roger C;
- Kirkham, Jennifer;
- Inglehearn, Chris F;
- Mighell, Alan J
Publication type:
Article
Clinical utility gene card for: Johanson-Blizzard syndrome.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 1, doi. 10.1038/ejhg.2013.65
By:
- Sukalo, Maja;
- Mayerle, Julia;
- Zenker, Martin
Publication type:
Article

Works matching IS 10184813 AND DT 2014 AND VI 22 AND IP 1

Reply to Townsend et al.

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer.

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Rare copy number variation in cerebral palsy.

Return of whole-genome sequencing results in paediatric research: a statement of the P<sup>3</sup>G international paediatrics platform.

CHEK2*1100delC homozygosity in the Netherlands-prevalence and risk of breast and lung cancer.

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.

Return of whole-genome sequencing results in paediatric research: a statement of the P<sup>3</sup>G international paediatrics platform.

Clinical utility gene card for: Catecholaminergic polymorphic ventricular tachycardia (CPVT).

S151A δ-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice.

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study.

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.

A modified two-stage approach for family-based genome-wide association studies.

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABA<sub>A</sub> receptor subunit gene cluster.

Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?

Inconsistent inheritance of telomere length (TL): is offspring TL more strongly correlated with maternal or paternal TL?

A non-genetic, epigenetic-like mechanism of telomere length inheritance?

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.

Autonomy and the patient's right 'not to know' in clinical whole-genomic sequencing.

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications.

Phenotype-Genotype Integrator (PheGenI): synthesizing genome-wide association study (GWAS) data with existing genomic resources.

Fair allocation of health-care resources: finding a model that does not disenfranchise users of genetic services. A commentary on Rogowski et al....

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.

In vitro antisense therapeutics for a deep intronic mutation causing Neurofibromatosis type 2.

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Clinical utility gene card for: Johanson-Blizzard syndrome.