Works matching IS 10184813 AND DT 2013 AND VI 21

Results: 282

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1349, doi. 10.1038/ejhg.2013.86

By:

Goubau, Christophe;
Devriendt, Koen;
Van der Aa, Nathalie;
Crepel, An;
Wieczorek, Dagmar;
Kleefstra, Tjitske;
Willemsen, Marjolein H;
Rauch, Anita;
Tzschach, Andreas;
de Ravel, Thomy;
Leemans, Peter;
Van Geet, Chris;
Buyse, Gunnar;
Freson, Kathleen

Publication type:

Article

PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1361, doi. 10.1038/ejhg.2013.50

By:

Drüsedau, Marion;
Dreesen, Jos C;
Derks-Smeets, Inge;
Coonen, Edith;
van Golde, Ron;
van Echten-Arends, Jannie;
Kastrop, Peter M M;
Blok, Marinus J;
Gómez-García, Encarna;
Geraedts, Joep P;
Smeets, Hubert J;
de Die-Smulders, Christine E;
Paulussen, Aimée D

Publication type:

Article

Clinical and molecular characterization of the potential CF disease modifier syntaxin 1A.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1462, doi. 10.1038/ejhg.2013.57

By:

von Kanel, Thomas;
Stanke, Frauke;
Weber, Melanie;
Schaller, Andre;
Racine, Julien;
Kraemer, Richard;
Chanson, Marc;
Tümmler, Burkhard;
Gallati, Sabina

Publication type:

Article

An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1389, doi. 10.1038/ejhg.2013.53

By:

Ross, Jason;
Lockett, Linda;
Brookes, Diana;
Tabor, Bruce;
Duesing, Konsta;
Buckley, Michael;
Lockett, Trevor;
Molloy, Peter;
Macrae, Finlay;
Young, Graeme;
Blanco, Ignacio;
Capella, Gabriel;
Hannan, Garry N

Publication type:

Article

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1377, doi. 10.1038/ejhg.2013.58

By:

Hilger, Alina;
Schramm, Charlotte;
Pennimpede, Tracie;
Wittler, Lars;
Dworschak, Gabriel C;
Bartels, Enrika;
Engels, Hartmut;
Zink, Alexander M;
Degenhardt, Franziska;
Müller, Annette M;
Schmiedeke, Eberhard;
Grasshoff-Derr, Sabine;
Märzheuser, Stefanie;
Hosie, Stuart;
Holland-Cunz, Stefan;
Wijers, Charlotte HW;
Marcelis, Carlo LM;
van Rooij, Iris ALM;
Hildebrandt, Friedhelm;
Herrmann, Bernhard G

Publication type:

Article

Germline copy number variation of genes involved in chromatin remodelling in families suggestive of Li-Fraumeni syndrome with brain tumours.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1369, doi. 10.1038/ejhg.2013.68

By:

Aury-Landas, Juliette;
Bougeard, Gaëlle;
Castel, Hélène;
Hernandez-Vargas, Hector;
Drouet, Aurélie;
Latouche, Jean-Baptiste;
Schouft, Marie-Thérèse;
Férec, Claude;
Leroux, Dominique;
Lasset, Christine;
Coupier, Isabelle;
Caron, Olivier;
Herceg, Zdenko;
Frebourg, Thierry;
Flaman, Jean-Michel

Publication type:

Article

Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1423, doi. 10.1038/ejhg.2013.51

By:

Poetsch, Micaela;
Wiegand, Aline;
Harder, Melanie;
Blöhm, Rowena;
Rakotomavo, Noel;
Freitag-Wolf, Sandra;
von Wurmb-Schwark, Nicole

Publication type:

Article

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1457, doi. 10.1038/ejhg.2013.22

By:

Bonnet, Céline;
Ali Khan, Asma;
Bresso, Emmanuel;
Vigouroux, Charlène;
Béri, Mylène;
Lejczak, Sarah;
Deemer, Bénédicte;
Andrieux, Joris;
Philippe, Christophe;
Moncla, Anne;
Giurgea, Irina;
Devignes, Marie-Dominique;
Leheup, Bruno;
Jonveaux, Philippe

Publication type:

Article

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1411, doi. 10.1038/ejhg.2013.60

By:

Kanduri, Chakravarthi;
Ukkola-Vuoti, Liisa;
Oikkonen, Jaana;
Buck, Gemma;
Blancher, Christine;
Raijas, Pirre;
Karma, Kai;
Lähdesmäki, Harri;
Järvelä, Irma

Publication type:

Article

Consulting the community: public expectations and attitudes about genetics research.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1338, doi. 10.1038/ejhg.2013.64

By:

Etchegary, Holly;
Green, Jane;
Dicks, Elizabeth;
Pullman, Daryl;
Street, Catherine;
Parfrey, Patrick

Publication type:

Article

Joint detection of association, imprinting and maternal effects using all children and their parents.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1449, doi. 10.1038/ejhg.2013.49

By:

Han, Miao;
Hu, Yue-Qing;
Lin, Shili

Publication type:

Article

Oncogenic mutations and microsatellite instability phenotype predict specific anatomical subsite in colorectal cancer patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1383, doi. 10.1038/ejhg.2013.66

By:

Corso, Giovanni;
Pascale, Valeria;
Flauti, Giuseppe;
Ferrara, Francesco;
Marrelli, Daniele;
Roviello, Franco

Publication type:

Article

A unifying framework for robust association testing, estimation, and genetic model selection using the generalized linear model.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1442, doi. 10.1038/ejhg.2013.62

By:

Loley, Christina;
König, Inke R;
Hothorn, Ludwig;
Ziegler, Andreas

Publication type:

Article

From evolutionary bystander to master manipulator: the emerging roles for the mitochondrial genome as a modulator of nuclear gene expression.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1335, doi. 10.1038/ejhg.2013.75

By:

Horan, Martin P;
Gemmell, Neil J;
Wolff, Jonci N

Publication type:

Article

Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1396, doi. 10.1038/ejhg.2013.84

By:

Renault, Nisa K E;
Pritchett, Sonja M;
Howell, Robin E;
Greer, Wenda L;
Sapienza, Carmen;
Ørstavik, Karen Helene;
Hamilton, David C

Publication type:

Article

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1403, doi. 10.1038/ejhg.2013.47

By:

Papasavva, Thessalia;
van IJcken, Wilfred F J;
Kockx, Christel E M;
van den Hout, Mirjam C G N;
Kountouris, Petros;
Kythreotis, Loukas;
Kalogirou, Eleni;
Grosveld, Frank G;
Kleanthous, Marina

Publication type:

Article

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1344, doi. 10.1038/ejhg.2013.71

By:

Berland, Siren;
Appelbäck, Mia;
Bruland, Ove;
Beygo, Jasmin;
Buiting, Karin;
Mackay, Deborah J G;
Karen Temple, I;
Houge, Gunnar

Publication type:

Article

A 680 kb duplication at the FTO locus in a kindred with obesity and a distinct body fat distribution.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1417, doi. 10.1038/ejhg.2013.63

By:

Davies, Robert W;
Lau, Paulina;
Naing, Thet;
Nikpay, Majid;
Doelle, Heather;
Ellen Harper, Mary;
Dent, Robert;
McPherson, Ruth

Publication type:

Article

Homozygosity analysis in amyotrophic lateral sclerosis.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1429, doi. 10.1038/ejhg.2013.59

By:

Mok, Kin;
Laaksovirta, Hannu;
Tienari, Pentti J;
Peuralinna, Terhi;
Myllykangas, Liisa;
Chiò, Adriano;
Traynor, Bryan J;
Nalls, Michael A;
Gurunlian, Nicole;
Shatunov, Aleksey;
Restagno, Gabriella;
Mora, Gabriele;
Nigel Leigh, P;
Shaw, Chris E;
Morrison, Karen E;
Shaw, Pamela J;
Al-Chalabi, Ammar;
Hardy, John;
Orrell, Richard W

Publication type:

Article

Secondary variants - in defense of a more fitting term in the incidental findings debate.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1331, doi. 10.1038/ejhg.2013.89

By:

Christenhusz, Gabrielle M;
Devriendt, Koenraad;
Dierickx, Kris

Publication type:

Article

Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1356, doi. 10.1038/ejhg.2013.52

By:

Berry, Vanita;
Gregory-Evans, Cheryl;
Emmett, Warren;
Waseem, Naushin;
Raby, Jacob;
Prescott, DeQuincy;
Moore, Anthony T;
Bhattacharya, Shomi S

Publication type:

Article

Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 12, p. 1436, doi. 10.1038/ejhg.2013.25

By:

Omoumi, Ardeshir;
Wang, Zihua;
Yeow, Vincent;
Wu-Chou, Yah-Huei;
Chen, Philip K;
Ruczinski, Ingo;
Cheng, Joanne;
Cheah, Felicia S H;
Lee, Caroline G;
Beaty, Terri H;
Chong, Samuel S

Publication type:

Article

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology.

Published in:

European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.219

By:

Harper, Joyce C;
Geraedts, Joep;
Borry, Pascal;
Cornel, Martina C;
Dondorp, Wybo;
Gianaroli, Luca;
Harton, Gary;
Milachich, Tanya;
Kääriäinen, Helena;
Liebaers, Inge;
Morris, Michael;
Sequeiros, Jorge;
Sermon, Karen;
Shenfield, Françoise;
Skirton, Heather;
Soini, Sirpa;
Spits, Claudia;
Veiga, Anna;
Vermeesch, Joris Robert;
Viville, Stéphane

Publication type:

Article

Citizens' perspectives on personalized medicine: a qualitative public deliberation study.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1197, doi. 10.1038/ejhg.2012.300

By:

Bombard, Yvonne;
Abelson, Julia;
Simeonov, Dorina;
Gauvin, Francois-Pierre

Publication type:

Article

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1272, doi. 10.1038/ejhg.2013.32

By:

McFarland, Karen N;
Liu, Jilin;
Landrian, Ivette;
Gao, Rui;
Sarkar, Partha S;
Raskin, Salmo;
Moscovich, Mariana;
Gatto, Emilia M;
Teive, Hélio A G;
Ochoa, Adriana;
Rasmussen, Astrid;
Ashizawa, Tetsuo

Publication type:

Article

Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1286, doi. 10.1038/ejhg.2013.38

By:

Barzan, David;
Veldwijk, Marlon R;
Herskind, Carsten;
Li, Yang;
Zhang, Bo;
Sperk, Elena;
Du, Wei-Dong;
Zhang, Xue-Jun;
Wenz, Frederik

Publication type:

Article

Association between a 15q25 gene variant, nicotine-related habits, lung cancer and COPD among 56 307 individuals from the HUNT study in Norway.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1293, doi. 10.1038/ejhg.2013.26

By:

Gabrielsen, Maiken E;
Romundstad, Pål;
Langhammer, Arnulf;
Krokan, Hans E;
Skorpen, Frank

Publication type:

Article

MED12 exon 2 mutations in histopathological uterine leiomyoma variants.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1300, doi. 10.1038/ejhg.2013.33

By:

Mäkinen, Netta;
Vahteristo, Pia;
Kämpjärvi, Kati;
Arola, Johanna;
Bützow, Ralf;
Aaltonen, Lauri A

Publication type:

Article

Novel progranulin mutations with reduced serum-progranulin levels in frontotemporal lobar degeneration.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1260, doi. 10.1038/ejhg.2013.37

By:

Chiang, Huei-Hsin;
Forsell, Charlotte;
Lilius, Lena;
Öijerstedt, Linn;
Thordardottir, Steinunn;
Shanmugarajan, Krishnan;
Westerlund, Marie;
Nennesmo, Inger;
Thonberg, Håkan;
Graff, Caroline

Publication type:

Article

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1219, doi. 10.1038/ejhg.2013.40

By:

Weemaes, Corry MR;
van Tol, Maarten JD;
Wang, Jun;
van Ostaijen-ten Dam, Monique M;
van Eggermond, Marja CJA;
Thijssen, Peter E;
Aytekin, Caner;
Brunetti-Pierri, Nicola;
van der Burg, Mirjam;
Graham Davies, E;
Ferster, Alina;
Furthner, Dieter;
Gimelli, Giorgio;
Gennery, Andy;
Kloeckener-Gruissem, Barbara;
Meyn, Stephan;
Powell, Cynthia;
Reisli, Ismail;
Schuetz, Catharina;
Schulz, Ansgar

Publication type:

Article

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31

By:

Scoto, Mariacristina;
Cullup, Thomas;
Cirak, Sebahattin;
Yau, Shu;
Manzur, Adnan Y;
Feng, Lucy;
Jacques, Thomas S;
Anderson, Glenn;
Abbs, Stephen;
Sewry, Caroline;
Jungbluth, Heinz;
Muntoni, Francesco

Publication type:

Article

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1312, doi. 10.1038/ejhg.2013.27

By:

de Bot, Susanne T;
Burggraaff, Rogier C;
Herkert, Johanna C;
Schelhaas, Helenius J;
Post, Bart;
Diekstra, Adinda;
van Vliet, Reinout O;
van der Knaap, Marjo S;
Kamsteeg, Erik-Jan;
Scheffer, Hans;
van de Warrenburg, Bart P;
Verschuuren-Bemelmans, Corien C;
Kremer, Hubertus PH

Publication type:

Article

Eliciting preferences for priority setting in genetic testing: a pilot study comparing best-worst scaling and discrete-choice experiments.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1202, doi. 10.1038/ejhg.2013.36

By:

Severin, Franziska;
Schmidtke, Jörg;
Mühlbacher, Axel;
Rogowski, Wolf H

Publication type:

Article

Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1266, doi. 10.1038/ejhg.2013.23

By:

Jonsson, Frida;
Burstedt, Marie S;
Sandgren, Ola;
Norberg, Anna;
Golovleva, Irina

Publication type:

Article

Population structure, migration, and diversifying selection in the Netherlands.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1277, doi. 10.1038/ejhg.2013.48

By:

Abdellaoui, Abdel;
Hottenga, Jouke-Jan;
Knijff, Peter de;
Nivard, Michel G;
Xiao, Xiangjun;
Scheet, Paul;
Brooks, Andrew;
Ehli, Erik A;
Hu, Yueshan;
Davies, Gareth E;
Hudziak, James J;
Sullivan, Patrick F;
van Beijsterveldt, Toos;
Willemsen, Gonneke;
de Geus, Eco J;
Penninx, Brenda W J H;
Boomsma, Dorret I

Publication type:

Article

Clinical utility gene card for: Achromatopsia - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.44

By:

Kohl, Susanne;
Hamel, Christian

Publication type:

Article

Understanding the impact of genetic testing for inherited retinal dystrophy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1209, doi. 10.1038/ejhg.2013.19

By:

Combs, Ryan;
McAllister, Marion;
Payne, Katherine;
Lowndes, Jo;
Devery, Sophie;
Webster, Andrew R;
Downes, Susan M;
Moore, Anthony T;
Ramsden, Simon;
Black, Graeme;
Hall, Georgina

Publication type:

Article

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45

By:

Higashimoto, Ken;
Maeda, Toshiyuki;
Okada, Junichiro;
Ohtsuka, Yasufumi;
Sasaki, Kensaku;
Hirose, Akiko;
Nomiyama, Makoto;
Takayanagi, Toshimitsu;
Fukuzawa, Ryuji;
Yatsuki, Hitomi;
Koide, Kayoko;
Nishioka, Kenichi;
Joh, Keiichiro;
Watanabe, Yoriko;
Yoshiura, Koh-ichiro;
Soejima, Hidenobu

Publication type:

Article

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1226, doi. 10.1038/ejhg.2013.39

By:

Li Mura, Ilena Egle Astrid;
Bauce, Barbara;
Nava, Andrea;
Fanciulli, Manuela;
Vazza, Giovanni;
Mazzotti, Elisa;
Rigato, Ilaria;
De Bortoli, Marzia;
Beffagna, Giorgia;
Lorenzon, Alessandra;
Calore, Martina;
Dazzo, Emanuela;
Nobile, Carlo;
Luisa Mostacciuolo, Maria;
Corrado, Domenico;
Basso, Cristina;
Daliento, Luciano;
Thiene, Gaetano;
Rampazzo, Alessandra

Publication type:

Article

Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1240, doi. 10.1038/ejhg.2013.21

By:

Pyo Park, Sung;
Hwan Hong, In;
Tsang, Stephen H;
Chang, Stanley

Publication type:

Article

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42

By:

Witsch, Jens;
Szafranski, Przemyslaw;
Chen, Chun-An;
Immken, LaDonna;
Simpson Patel, Gayle;
Hixson, Patricia;
Cheung, Sau Wai;
Stankiewicz, Pawel;
Schaaf, Christian P

Publication type:

Article

Chromosomal evolution: Molecular cytogenetic evolution of mammals.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1330, doi. 10.1038/ejhg.2013.4

By:

Stoll, Claude

Publication type:

Article

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1232, doi. 10.1038/ejhg.2013.20

By:

Dias, Cristina;
McDonald, Allison;
Sincan, Murat;
Rupps, Rosemarie;
Markello, Thomas;
Salvarinova, Ramona;
Santos, Rui F;
Menghrajani, Kamal;
Ahaghotu, Chidi;
Sutherland, Darren P;
Fortuno, Edgardo S;
Kollmann, Tobias R;
Demos, Michelle;
Friedman, Jan M;
Speert, David P;
Gahl, William A;
Boerkoel, Cornelius F

Publication type:

Article

Clinical utility gene card for: Alström Syndrome - update 2013.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61

By:

Marshall, Jan D;
Maffei, Pietro;
Beck, Sebastian;
Barrett, Timothy G;
Paisey, Richard;
Naggert, Jürgen K

Publication type:

Article

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1325, doi. 10.1038/ejhg.2013.83

By:

Hoefsloot, Lies H;
Roux, Anne-Françoise;
Bitner-Glindzicz, Maria

Publication type:

Article

The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1253, doi. 10.1038/ejhg.2013.24

By:

Mégarbané, André;
Noguier, Florian;
Stora, Samantha;
Manchon, Laurent;
Mircher, Clotilde;
Bruno, Roman;
Dorison, Nathalie;
Pierrat, Fabien;
Rethoré, Marie-Odile;
Trentin, Bernadette;
Ravel, Aimé;
Morent, Marine;
Lefranc, Gerard;
Piquemal, David

Publication type:

Article

Genetics of eye colours in different rural populations on the Silk Road.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1320, doi. 10.1038/ejhg.2013.41

By:

Ulivi, Sheila;
Mezzavilla, Massimo;
Gasparini, Paolo

Publication type:

Article

Controlling complexity: the clinical relevance of mouse complex genetics.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1191, doi. 10.1038/ejhg.2013.79

By:

Schughart, Klaus;
Libert, Claude;
Kas, Martien J

Publication type:

Article

The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1308, doi. 10.1038/ejhg.2013.43

By:

Gialluisi, Alessandro;
Incollu, Simona;
Pippucci, Tommaso;
Lepori, Maria Barbara;
Zappu, Antonietta;
Loudianos, Georgios;
Romeo, Giovanni

Publication type:

Article

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1214, doi. 10.1038/ejhg.2013.29

By:

Gonzalez, Michael;
Nampoothiri, Sheela;
Kornblum, Cornelia;
Oteyza, Andrés Caballero;
Walter, Jochen;
Konidari, Ioanna;
Hulme, William;
Speziani, Fiorella;
Schöls, Ludger;
Züchner, Stephan;
Schüle, Rebecca

Publication type:

Article