Works matching AU Stattin, Eva‐Lena

Results: 37

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.

Published in:

2017

By:

Wilbe, Maria;
Gudmundsson, Sanna;
Johansson, Josefin;
Ameur, Adam;
Stattin, Eva‐Lena;
Annerén, Göran;
Malmgren, Helena;
Frykholm, Carina;
Bondeson, Marie‐Louise;
Stattin, Eva-Lena;
Annerén, Göran;
Bondeson, Marie-Louise

Publication type:

journal article

Detailed analysis of HTT repeat elements in human blood using targeted amplification‐free long‐read sequencing.

Published in:

Human Mutation, 2018, v. 39, n. 9, p. 1262, doi. 10.1002/humu.23580

By:

Höijer, Ida;
Tsai, Yu‐Chih;
Clark, Tyson A.;
Kotturi, Paul;
Dahl, Niklas;
Stattin, Eva‐Lena;
Bondeson, Marie‐Louise;
Feuk, Lars;
Gyllensten, Ulf;
Ameur, Adam

Publication type:

Article

Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.

Published in:

Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538

By:

Sukalo, Maja;
Fiedler, Ariane;
Guzmán, Celina;
Spranger, Stephanie;
Addor, Marie ‐ Claude;
Mcheik, Jiad N.;
Oltra Benavent, Manuel;
Cobben, Jan M.;
Gillis, Lynette A.;
Shealy, Amy G.;
Deshpande, Charu;
Bozorgmehr, Bita;
Everman, David B.;
Stattin, Eva ‐ Lena;
Liebelt, Jan;
Keller, Klaus ‐ Michael;
Bertola, Débora Romeo;
Karnebeek, Clara D.M.;
Bergmann, Carsten;
Liu, Zhifeng

Publication type:

Article

Mutation update for the PORCN gene.

Published in:

Human Mutation, 2011, v. 32, n. 7, p. 723, doi. 10.1002/humu.21505

By:

Lombardi, Maria Paola;
Bulk, Saskia;
Celli, Jacopo;
Lampe, Anne;
Gabbett, Michael T.;
Ousager, Lillian Bomme;
van der Smagt, Jasper J.;
Soller, Maria;
Stattin, Eva-Lena;
Mannens, Marcel A.M.M.;
Smigiel, Robert;
Hennekam, Raoul C.

Publication type:

Article

Genetic screening in sudden cardiac death in the young can save future lives.

Published in:

International Journal of Legal Medicine, 2016, v. 130, n. 1, p. 59, doi. 10.1007/s00414-015-1237-8

By:

Stattin, Eva-Lena;
Westin, Ida;
Cederquist, Kristina;
Jonasson, Jenni;
Jonsson, Björn-Anders;
Mörner, Stellan;
Norberg, Anna;
Krantz, Peter;
Wisten, Aase

Publication type:

Article

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome.

Published in:

Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.752756

By:

Lennartsson, Otto;
Lodefalk, Maria;
Wehtje, Henrik;
Stattin, Eva-Lena;
Sävendahl, Lars;
Nilsson, Ola

Publication type:

Article

Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.

Published in:

Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09211-y

By:

Stattin, Eva-Lena;
Lindblom, Karin;
Struglics, André;
Önnerfjord, Patrik;
Goldblatt, Jack;
Dixit, Abhijit;
Sarkar, Ajoy;
Randell, Tabitha;
Suri, Mohnish;
Raggio, Cathleen;
Davis, Jessica;
Carter, Erin;
Aspberg, Anders

Publication type:

Article

Familial and perinatal risk factors for micro- and macroalbuminuria in young IDDM patients.

Published in:

Diabetes, 1998, v. 47, n. 7, p. 1121, doi. 10.2337/diabetes.47.7.1121

By:

Rudberg, Susanne;
Stattin, Eva-Lena;
Dahlquist, Gisela

Publication type:

Article

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

Published in:

BMC Cardiovascular Disorders, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2261-14-22

By:

Winbo, Annika;
Stattin, Eva-Lena;
Nordin, Charlotte;
Diamant, Ulla-Britt;
Persson, Johan;
Jensen, Steen M.;
Rydberg, Annika

Publication type:

Article

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

Published in:

2014

By:

Winbo, Annika;
Stattin, Eva-Lena;
Nordin, Charlotte;
Diamant, Ulla-Britt;
Persson, Johan;
Jensen, Steen M;
Rydberg, Annika

Publication type:

journal article

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Published in:

BMC Cardiovascular Disorders, 2012, v. 12, n. 1, p. 95, doi. 10.1186/1471-2261-12-95

By:

Stattin, Eva-Lena;
Bostr”m, Ida Maria;
Winbo, Annika;
Cederquist, Kristina;
Jonasson, Jenni;
Jonsson, Bj”rn-Anders;
Diamant, Ulla-Britt;
Jensen, Steen M.;
Rydberg, Annika;
Norberg, Anna

Publication type:

Article

Chondrocytes Derived From Mesenchymal Stromal Cells and Induced Pluripotent Cells of Patients With Familial Osteochondritis Dissecans Exhibit an Endoplasmic Reticulum Stress Response and Defective Matrix Assembly.

Published in:

Stem Cells Translational Medicine, 2016, v. 5, n. 9, p. 1171, doi. 10.5966/sctm.2015-0384

By:

MAOJIA XU;
STATTIN, EVA-LENA;
SHAW, GEORGINA;
HEINEGÅRD, DICK;
SULLIVAN, GARETH;
WILMUT, IAN;
COLMAN, ALAN;
ÖNNERFJORD, PATRIK;
KHABUT, AREEJ;
ASPBERG, ANDERS;
DOCKERY, PETER;
HARDINGHAM, TIMOTHY;
MURPHY, MARY;
BARRY, FRANK

Publication type:

Article

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 325, doi. 10.1111/cge.13880

By:

Thuresson, Ann‐Charlotte;
Croft, Brittany;
Hailer, Yasmin D.;
Liminga, Gunnar;
Arvidsson, Carl‐Göran;
Harley, Vincent R.;
Stattin, Eva‐Lena

Publication type:

Article

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Published in:

Clinical Genetics, 2019, v. 96, n. 2, p. 118, doi. 10.1111/cge.13543

By:

Frisk, Sofia;
Taylan, Fulya;
Blaszczyk, Izabela;
Nennesmo, Inger;
Annerén, Göran;
Herm, Bettina;
Stattin, Eva‐Lena;
Zachariadis, Vasilios;
Lindstrand, Anna;
Tesi, Bianca;
Laurell, Tobias;
Nordgren, Ann

Publication type:

Article

Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses.

Published in:

Clinical Genetics, 2019, v. 95, n. 5, p. 607, doi. 10.1111/cge.13532

By:

Angius, Andrea;
Uva, Paolo;
Oppo, Manuela;
Buers, Insa;
Persico, Ivana;
Onano, Stefano;
Cuccuru, Gianmauro;
Van Allen, Margot I.;
Hulait, Gurdip;
Aubertin, Gudrun;
Muntoni, Francesco;
Fry, Andrew E.;
Annerén, Göran;
Stattin, Eva‐Lena;
Palomares‐Bralo, María;
Santos‐Simarro, Fernando;
Cucca, Francesco;
Crisponi, Giangiorgio;
Rutsch, Frank;
Crisponi, Laura

Publication type:

Article

Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.

Published in:

American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1722, doi. 10.1002/ajmg.a.63194

By:

Gazdagh, Gabriella;
Hunt, David;
Gonzalez, Anna Maria Cueto;
Rodriguez, Monserrat Pons;
Chaudhry, Ayeshah;
Madruga, Marcos;
Vansenne, Fleur;
Shears, Deborah;
Curie, Aurore;
Stattin, Eva‐Lena;
Anderlid, Britt‐Marie;
Trajkova, Slavica;
Angelovska, Elena Sukarova;
McWilliam, Catherine;
Wyatt, Philip R.;
O'Driscoll, Mary;
Atton, Giles;
Bergman, Anke K.;
Zacher, Pia;
Mewasingh, Leena D.

Publication type:

Article

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.

Published in:

American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1405, doi. 10.1002/ajmg.a.38691

By:

Stattin, Eva‐Lena;
Johansson, Josefin;
Gudmundsson, Sanna;
Ameur, Adam;
Lundberg, Staffan;
Bondeson, Marie‐Louise;
Wilbe, Maria

Publication type:

Article

Higher Intakes of Fish Protein Are Related to a Lower Risk of Microalbuminuria in Young Swedish Type 1 Diabetic Patients.

Published in:

Diabetes Care, 2001, v. 24, n. 5, p. 805, doi. 10.2337/diacare.24.5.805

By:

Mollsten, Anna V.;
Dahlquist, Gisela G.;
Stattin, Eva-Lena;
Rudberg, Susanne

Publication type:

Article

A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01015-z

By:

Körberg, Izabella;
Nowinski, Daniel;
Bondeson, Marie-Louise;
Melin, Malin;
Kölby, Lars;
Stattin, Eva-Lena

Publication type:

Article

Vectorcardiographic Recordings of the Q-T Interval in a Pediatric Long Q-T Syndrome Population.

Published in:

Pediatric Cardiology, 2013, v. 34, n. 2, p. 245, doi. 10.1007/s00246-012-0425-2

By:

Diamant, Ulla-Britt;
Jensen, Steen;
Winbo, Annika;
Stattin, Eva-Lena;
Rydberg, Annika

Publication type:

Article

Urinary albumin excretion rate and glomerular filtration rate in the prediction of diabetic nephropathy; a long‐term follow‐up study of childhood onset type‐1 diabetic patients.

Published in:

Nephrology Dialysis Transplantation, 2001, v. 16, n. 7, p. 1382, doi. 10.1093/ndt/16.7.1382

By:

Dahlquist, Gisela;
Stattin, Eva‐Lena;
Rudberg, Susanne

Publication type:

Article

Unravelling the mystery behind sudden death in the young: a wake-up call for nationwide autopsy-based approach-Authors' reply.

Published in:

2018

By:

Wisten, Aase;
Krantz, Peter;
Stattin, Eva-Lena

Publication type:

Letter

Sudden cardiac death among the young in Sweden from 2000 to 2010: an autopsy-based study.

Published in:

2017

By:

Wisten, Aase;
Krantz, Peter;
Stattin, Eva-Lena

Publication type:

journal article

Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

Published in:

EP: Europace, 2012, v. 14, n. 12, p. 1799, doi. 10.1093/europace/eus111

By:

Winbo, Annika;
Stattin, Eva-Lena;
Diamant, Ulla-Britt;
Persson, Johan;
Jensen, Steen M.;
Rydberg, Annika

Publication type:

Article

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.723

By:

Clewemar, Pantelis;
Hailer, Nils P.;
Hailer, Yasmin;
Klar, Joakim;
Kindmark, Andreas;
Ljunggren, Östen;
Stattin, Eva‐Lena

Publication type:

Article

High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66643-0

By:

Sundblom, Jimmy;
Niemelä, Valter;
Ghazarian, Maria;
Strand, Ann-Sofi;
Bergdahl, Ingvar A.;
Jansson, Jan-Håkan;
Söderberg, Stefan;
Stattin, Eva-Lena

Publication type:

Article

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 23, p. 3776, doi. 10.1093/hmg/ddn274

By:

Mansouri, Mahmoud Reza;
Schuster, Jens;
Badhai, Jitendra;
Stattin, Eva-Lena;
Lösel, Ralf;
Wehling, Martin;
Carlsson, Birgit;
Hovatta, Outi;
Karlström, Per Olof;
Golovleva, Irina;
Toniolo, Daniela;
Bione, Silvia;
Peluso, John;
Dahl, Niklas

Publication type:

Article

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination.

Published in:

Human Molecular Genetics, 2007, v. 16, n. 14, p. 1773, doi. 10.1093/hmg/ddm125

By:

Hilton, Emma N.;
Manson, Forbes D.C.;
Urquhart, Jill E.;
Johnston, Jennifer J.;
Slavotinek, Anne M.;
Hedera, Peter;
Stattin, Eva-Lena;
Nordgren, Ann;
Biesecker, Leslie G.;
Black, Graeme C.M.

Publication type:

Article

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Published in:

European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71

By:

Wentzel, Christian;
Rajcan-Separovic, Evica;
Ruivenkamp, Claudia A. L.;
Chantot-Bastaraud, Sandra;
Metay, Corinne;
Andrieux, Joris;
Annerén, Göran;
Gijsbers, Antoinet C. J.;
Druart, Luc;
Hyon, Capucine;
Portnoi, Marie-France;
Stattin, Eva-Lena;
Vincent-Delorme, Catherine;
Kant, Sarina G.;
Steinraths, Michelle;
Marlin, Sandrine;
Giurgea, Irina;
Thuresson, Ann-Charlotte

Publication type:

Article

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-59683-3

By:

ten Berk de Boer, Esmee;
Ameur, Adam;
Bunikis, Ignas;
Ek, Marlene;
Stattin, Eva-Lena;
Feuk, Lars;
Eisfeldt, Jesper;
Lindstrand, Anna

Publication type:

Article

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Published in:

PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0150555

By:

Wang, Zheng;
Iida, Aritoshi;
Miyake, Noriko;
Nishiguchi, Koji M.;
Fujita, Kosuke;
Nakazawa, Toru;
Alswaid, Abdulrahman;
Albalwi, Mohammed A.;
Kim, Ok-Hwa;
Cho, Tae-Joon;
Lim, Gye-Yeon;
Isidor, Bertrand;
David, Albert;
Rustad, Cecilie F.;
Merckoll, Else;
Westvik, Jostein;
Stattin, Eva-Lena;
Grigelioniene, Giedre;
Kou, Ikuyo;
Nakajima, Masahiro

Publication type:

Article

Sex is a moderator of the association between NOS1AP sequence variants and QTc in two long QT syndrome founder populations: a pedigree-based measured genotype association analysis.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0435-2

By:

Winbo, Annika;
Stattin, Eva-Lena;
Westin, Ida Maria;
Norberg, Anna;
Persson, Johan;
Jensen, Steen M.;
Rydberg, Annika

Publication type:

Article

Multi-Omic Investigations of a 17–19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 16, p. 9392, doi. 10.3390/ijms23169392

By:

Eisfeldt, Jesper;
Schuy, Jakob;
Stattin, Eva-Lena;
Kvarnung, Malin;
Falk, Anna;
Feuk, Lars;
Lindstrand, Anna

Publication type:

Article

Symptoms and ECG changes precede sudden cardiac death in hypertrophic cardiomyopathy—A nationwide study among the young in Sweden.

Published in:

PLoS ONE, 2022, v. 17, n. 9, p. 1, doi. 10.1371/journal.pone.0273567

By:

Börjesson, Erik;
Svennblad, Bodil;
Wisten, Aase;
Börjesson, Mats;
Stattin, Eva-Lena

Publication type:

Article

Common founder effects of hereditary hemochromatosis, Wilson's disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.

Published in:

Hereditas, 2017, p. 1, doi. 10.1186/s41065-017-0052-2

By:

Olsson, K. Sigvard;
Wålinder, Olof;
Jansson, Ulf;
Wilbe, Maria;
Bondeson, Marie-Louise;
Stattin, Eva-Lena;
Raha-Chowdhury, Ruma;
Williams, Roger

Publication type:

Article

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0326-y

By:

Hannuksela, Matias;
Stattin, Eva-Lena;
Klar, Joakim;
Ameur, Adam;
Johansson, Bengt;
Sörensen, Karen;
Carlberg, Bo

Publication type:

Article

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

Published in:

BMC Medical Genetics, 2012, v. 13, n. 1, p. 123, doi. 10.1186/1471-2350-13-123

By:

Hooper, Sean D.;
Johansson, Anna C. V.;
Tellgren-Roth, Christian;
Stattin, Eva-Lena;
Dahl, Niklas;
Cavelier, Lucia;
Feuk, Lars

Publication type:

Article