Britt-Marie Anderlid

Britt-Marie Anderlid

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Britt-Marie Anderlid

Britt-Marie Anderlid

Publications by authors named "Britt-Marie Anderlid"

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Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.

Mol Genet Genomic Med 2019 Nov 15:e1013. Epub 2019 Nov 15.

Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet & Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm County Council, Stockholm, Sweden.

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http://dx.doi.org/10.1002/mgg3.1013DOI Listing
November 2019

HLA Polymorphism in Regressive and Non-Regressive Autism: A Preliminary Study.

Autism Res 2019 Oct 8. Epub 2019 Oct 8.

Gillberg Neuropsychiatry Centre, Institute of Neuroscience and Physiology, University of Gothenburg, Sahlgrenska Academy, Gothenburg, Sweden.

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http://dx.doi.org/10.1002/aur.2217DOI Listing
October 2019

Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.

Stem Cell Res 2019 Aug 27;39:101518. Epub 2019 Jul 27.

Uppsala University, Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101518DOI Listing
August 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae.

Dev Med Child Neurol 2018 12 28;60(12):1251-1255. Epub 2018 Jun 28.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/dmcn.13939DOI Listing
December 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome.

Mol Autism 2018 8;9. Epub 2018 Jan 8.

NevSom, Department of Rare Disorders and Disabilities, Oslo University Hospital, Oslo, Norway.

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https://molecularautism.biomedcentral.com/articles/10.1186/s
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http://dx.doi.org/10.1186/s13229-017-0184-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759230PMC
October 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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http://doi.wiley.com/10.1002/mgg3.387
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http://dx.doi.org/10.1002/mgg3.387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014478PMC
May 2018

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders.

Twin Res Hum Genet 2018 02 8;21(1):1-11. Epub 2018 Jan 8.

Center of Neurodevelopmental Disorders (KIND),Department of Women's and Children's Health,Karolinska Institutet,Solna,Sweden.

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http://dx.doi.org/10.1017/thg.2017.69DOI Listing
February 2018

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome.

J Allergy Clin Immunol 2018 01 5;141(1):408-411.e8. Epub 2017 Aug 5.

Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.043DOI Listing
January 2018

Minor physical anomalies in neurodevelopmental disorders: a twin study.

Child Adolesc Psychiatry Ment Health 2017 28;11:57. Epub 2017 Nov 28.

Department of Women's and Children's Health, Center of Neurodevelopmental Disorders (KIND), Karolinska Institutet & Child and Adolescent Psychiatry, Center for Psychiatry Research, Stockholm County Council, Gävlegatan 22B, 113 30 Stockholm, Sweden.

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http://dx.doi.org/10.1186/s13034-017-0195-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706157PMC
November 2017

[Insufficient knowledge of the relationship between sex chromosome abnormalities and psychiatric diagnoses].

Lakartidningen 2017 06 2;114. Epub 2017 Jun 2.

Karolinska Institutet - Institutionen för klinisk neurovetenskap Stockholm, Sweden - Department of Clinical Neuroscience Stockholm, Sweden.

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June 2017

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Am J Med Genet A 2017 May 20;173(5):1396-1399. Epub 2017 Mar 20.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.38214DOI Listing
May 2017

X-linked Malformation and Cochlear Implantation.

Otol Neurotol 2017 01;38(1):38-46

*Department of Clinical Science, Intervention and Technology, Karolinska Institutet †Department of Otolaryngology, Karolinska University Hospital, Stockholm ‡Department of Signals and Systems, Chalmers University of Technology, Gothenburg, Sweden §Department of Special Needs Education, University of Oslo, Oslo, Norway ||Department of Radiology, Karolinska University Hospital ¶Department of Molecular Medicine and Surgery, Karolinska Institutet **Department of Clinical Genetics ††Department of Social Work in Health, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1097/MAO.0000000000001253DOI Listing
January 2017

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Mol Genet Genomic Med 2016 Jan 22;4(1):39-45. Epub 2015 Sep 22.

Department of Molecular Medicine and SurgeryCenter for Molecular MedicineCMM L8:02Karolinska InstitutetKarolinska University HospitalStockholmSweden; Department of Clinical GeneticsKarolinska University HospitalStockholmSweden.

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http://dx.doi.org/10.1002/mgg3.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707034PMC
January 2016

Rare copy number variants are common in young children with autism spectrum disorder.

Acta Paediatr 2015 Jun 11;104(6):610-8. Epub 2015 Mar 11.

Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1111/apa.12969DOI Listing
June 2015

Copy number variations in children with brain malformations and refractory epilepsy.

Am J Med Genet A 2015 Mar;167A(3):512-23

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36886DOI Listing
March 2015

CTNND2-a candidate gene for reading problems and mild intellectual disability.

J Med Genet 2015 Feb 3;52(2):111-22. Epub 2014 Dec 3.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2014-102757DOI Listing
February 2015

Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.

PLoS One 2014 15;9(1):e85600. Epub 2014 Jan 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America ; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893250PMC
December 2014

Small mosaic deletion encompassing the snoRNAs and SNURF-SNRPN results in an atypical Prader-Willi syndrome phenotype.

Am J Med Genet A 2014 Feb 5;164A(2):425-31. Epub 2013 Dec 5.

Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.36307DOI Listing
February 2014

Molecular and clinical delineation of the 17q22 microdeletion phenotype.

Eur J Hum Genet 2013 Oct 30;21(10):1085-92. Epub 2013 Jan 30.

1] Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden [2] Department of Molecular Medicine and Surgery and Center of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden [3] Department of Hand Surgery, Södersjukhuset, Stockholm, Sweden.

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http://www.nature.com/articles/ejhg2012306
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http://dx.doi.org/10.1038/ejhg.2012.306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778344PMC
October 2013

Partial tetrasomy 14 associated with multiple malformations.

Am J Med Genet A 2013 Jun 23;161A(6):1284-90. Epub 2013 Apr 23.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.35887DOI Listing
June 2013

First-degree relatives of young children with autism spectrum disorders: some gender aspects.

Res Dev Disabil 2012 Sep-Oct;33(5):1642-8. Epub 2012 May 2.

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden; Karolinska Institutet, Center of Neurodevelopmental Disorders, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ridd.2012.03.025DOI Listing
October 2012

[Lactose intolerance in children is an overdiagnosed condition. Risk of missing intestinal diseases such as IBD and celiac disease].

Lakartidningen 2012 Feb 1-7;109(5):218-21

Barnmottagningen, Södertälje sjukhus; sektionen för barngastroenterologi, hepatologi, nutrition, Astrid Lindgrens barnsjukhus.

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April 2012

Clinical perinatal genetics.

Semin Fetal Neonatal Med 2011 Apr;16(2):69

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http://dx.doi.org/10.1016/j.siny.2011.01.002DOI Listing
April 2011

Chimerism resulting from parthenogenetic activation and dispermic fertilization.

Am J Med Genet A 2010 Sep;152A(9):2277-86

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33594DOI Listing
September 2010

Molecular and clinical characterization of patients with overlapping 10p deletions.

Am J Med Genet A 2010 May;152A(5):1233-43

Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.a.33366DOI Listing
May 2010

De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.

Eur J Med Genet 2010 Jan-Feb;53(1):50-3. Epub 2009 Oct 24.

Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8:02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.10.003DOI Listing
April 2010

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Eur J Hum Genet 2009 Nov 6;17(11):1439-47. Epub 2009 May 6.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1038/ejhg.2009.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986678PMC
November 2009

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Eur J Med Genet 2009 Sep-Oct;52(5):358-62. Epub 2009 Jul 1.

Department of Molecular Medicine and Surgery, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1016/j.ejmg.2009.06.002DOI Listing
November 2009

Association of adenomatous polyposis coli (APC) gene polymorphisms with autism spectrum disorder (ASD).

Am J Med Genet B Neuropsychiatr Genet 2007 Apr;144B(3):351-4

Department of Clinical Genetics, CMM, Karolinska University Hospital, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.b.30415
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http://dx.doi.org/10.1002/ajmg.b.30415DOI Listing
April 2007

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Eur J Hum Genet 2007 Feb 15;15(2):143-9. Epub 2006 Nov 15.

Department of Molecular Medicine and Surgery, Karolinska Institute, Karolinska University Hospital Solna, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201737DOI Listing
February 2007

Detailed clinical description of four patients with 1.3 and 2.1 Mb chromosome imbalances derived from a familial t(12;17)(q24.33;q25.3).

Am J Med Genet A 2005 Apr;134(3):254-8

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/ajmg.a.30611
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http://dx.doi.org/10.1002/ajmg.a.30611DOI Listing
April 2005

A comparison of different metaphase CGH methods for the detection of cryptic chromosome aberrations of defined size.

Eur J Hum Genet 2004 Jun;12(6):447-54

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, CMM L8:02, Stockholm SE-17176, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201175DOI Listing
June 2004

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Eur J Hum Genet 2003 Jan;11(1):89-92

Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5200907DOI Listing
January 2003

FISH-mapping of a 100-kb terminal 22q13 deletion.

Hum Genet 2002 May 4;110(5):439-43. Epub 2002 Apr 4.

Department of Molecular Medicine, CMM, L8:02, Clinical Genetics Unit, Karolinska Institutet at Karolinska Hospital, 171 76 Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00439-002-0713-7DOI Listing
May 2002