Publications by authors named "Anna Wedell"

78Publications

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.

Int J Neonatal Screen 2020 Jun 27;6(2):42. Epub 2020 May 27.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital Solna, SE-171 76 Stockholm, Sweden; (U.v.D.); (H.Å.); (A.O.); (M.E.); (K.N.); (C.B.-J.); (Y.N.); (A.W.); (R.H.Z.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijns6020042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423009PMC
June 2020

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

J Pediatr 2020 Aug 19. Epub 2020 Aug 19.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2020.08.025DOI Listing
August 2020

mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia.

Neurol Genet 2020 Aug 2;6(4):e478. Epub 2020 Jul 2.

Department of Women's and Children's Health (T.S.), Department of Molecular Medicine and Surgery (M.M., N.L., H.S., A. Wedell), Science for Life Laboratory (M.M., H.S., A. Wedell), Department of Medical Biochemistry and Biophysics (A. Wredenberg), and Department of Clinical Neuroscience (D.M.M.), Karolinska Institutet; and Department of Pediatric Neurology (T.S.), Centre for Inherited Metabolic Diseases (N.L., A. Wredenberg, H.S., A. Wedell), and Department of Neuroradiology (D.M.M.), Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000478DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7357422PMC
August 2020

Loqusdb: added value of an observations database of local genomic variation.

BMC Bioinformatics 2020 Jul 1;21(1):273. Epub 2020 Jul 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12859-020-03609-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329469PMC
July 2020

FBXL4 deficiency increases mitochondrial removal by autophagy.

EMBO Mol Med 2020 Jul 11;12(7):e11659. Epub 2020 Jun 11.

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.15252/emmm.201911659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7338799PMC
July 2020

Heterogeneity of disease-causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants.

J Inherit Metab Dis 2019 09 12;42(5):1008-1018. Epub 2019 Aug 12.

Centre for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12136DOI Listing
September 2019

Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid.

Int J Mol Sci 2019 May 29;20(11). Epub 2019 May 29.

Department of Neurology, Karolinska University Hospital, 141 86 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20112631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6600349PMC
May 2019

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation.

Stem Cell Reports 2019 04 28;12(4):696-711. Epub 2019 Feb 28.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Karolinska Institutet, 171 65 Stockholm, Sweden; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, 171 65 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.stemcr.2019.01.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449840PMC
April 2019

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate.

Diabetes 2019 04 12;68(4):709-723. Epub 2019 Feb 12.

Division of Biochemistry, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2337/db18-0557DOI Listing
April 2019

Adenosine Kinase Deficiency: Report and Review.

Neuropediatrics 2019 02 26;50(1):46-50. Epub 2018 Nov 26.

Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676053
Publisher Site
http://dx.doi.org/10.1055/s-0038-1676053DOI Listing
February 2019

Chorea, psychosis, acanthocytosis, and prolonged survival associated with mutations.

Neurology 2018 10 14;91(15):710-712. Epub 2018 Sep 14.

From Karolinska University Hospital (M.P., A.P., C.F., M.D., J.L.-M., H.S., K.L., I.S., A. Wedell, A. Wredenberg, P.S.); Karolinska Institutet (M.P., A.P., C.F., Å.B., K.L., A. Wedell, A. Wredenberg, P.S.), Stockholm, Sweden; James J. Peters Veterans Medical Affair Center (R.H.W.), Bronx; and Mount Sinai School of Medicine (R.H.W.), New York, NY.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177277PMC
October 2018

Detection of 6-demethoxyubiquinone in CoQ deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Mol Genet Metab 2017 07 20;121(3):216-223. Epub 2017 May 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192173010
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2017.05.012DOI Listing
July 2017

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Hum Mol Genet 2017 07;26(13):2515-2525

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, SE-171 77, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115PMC
July 2017

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

J Inherit Metab Dis 2017 01 26;40(1):5-20. Epub 2016 Sep 26.

Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics Adolescent Medicine and Neonatology, University Medical Centre Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9972-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203850PMC
January 2017

The Spectrum of PAH Mutations and Increase of Milder Forms of Phenylketonuria in Sweden During 1965-2014.

JIMD Rep 2017 28;34:19-26. Epub 2016 Jul 28.

Centre for Inherited Metabolic Diseases (CMMS), L7:05, Karolinska University Hospital, Stockholm, SE-171 76, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2016_4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509542PMC
July 2016

[Hereditary metabolic diseases with onset in adulthood. Early and correct treatment of acute symptoms can be life-saving].

Lakartidningen 2016 Feb 1;113. Epub 2016 Feb 1.

Karolinska universitetssjukhuset - Centrum för medfödda metabola sjukdomar Stockholm, Sweden arolinska universitetssjukhuset - Centrum för medfödda metabola sjukdomar Stockholm, Sweden.

View Article

Download full-text PDF

Source
February 2016

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.

Am J Hum Genet 2015 Nov 29;97(5):761-8. Epub 2015 Oct 29.

Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, 171 77 Stockholm, Sweden; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 171 76 Stockholm, Sweden; Science for Life Laboratory and Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4667130PMC
November 2015

The ketogenic diet compensates for AGC1 deficiency and improves myelination.

Epilepsia 2015 Nov 24;56(11):e176-81. Epub 2015 Sep 24.

Center for Inherited Metabolic Diseases (CMMS), Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/epi.13193
Publisher Site
http://dx.doi.org/10.1111/epi.13193DOI Listing
November 2015

Biochemical and genetic diagnosis of 21-hydroxylase deficiency.

Endocrine 2015 Nov 4;50(2):306-14. Epub 2015 Sep 4.

Department of Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12020-015-0731-6DOI Listing
November 2015

SUV3 helicase is required for correct processing of mitochondrial transcripts.

Nucleic Acids Res 2015 Sep 7;43(15):7398-413. Epub 2015 Jul 7.

Division of Metabolic Diseases, Department of Laboratory Medicine; Karolinska Institutet, Stockholm 17177, Sweden Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm 17176, Sweden

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/nar/gkv692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4551930PMC
September 2015

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

J Med Genet 2015 Nov 17;52(11):779-83. Epub 2015 Jun 17.

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-102986
Publisher Site
http://dx.doi.org/10.1136/jmedgenet-2015-102986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4680133PMC
November 2015

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.

Clin Endocrinol (Oxf) 2015 Jan 7;82(1):37-44. Epub 2014 Jul 7.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.12526DOI Listing
January 2015

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

JAMA Pediatr 2014 Jun;168(6):567-74

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden4Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden6Department of Pediatric Endocrinology, Astrid Lindgren Children's Hospital, Ka.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamapediatrics.2013.5321DOI Listing
June 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Introduction to the ECR special issue on rare diseases.

Authors:
Anna Wedell

Exp Cell Res 2014 Jul 19;325(1). Epub 2014 Mar 19.

Karolinska Institutet, Department of Molecular Medicine and Surgery, S-17176 Stockholm, Sweden; Karolinska University Hospital, Centre for Inherited Metabolic Diseases, S-17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yexcr.2014.03.007DOI Listing
July 2014

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

Lancet Diabetes Endocrinol 2013 Sep 26;1(1):35-42. Epub 2013 Feb 26.

Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Paediatric Endocrinology, Karolinska University Hospital Solna, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S2213-8587(13)70007-XDOI Listing
September 2013

[2013 Nobel Prize in Physiology or Medicine. The Nobel laureates have explored a complicated transport system].

Authors:
Anna Wedell

Lakartidningen 2013 Oct 16-22;110(42):1856-7

Institutionen för molekylär medicin och kirurgi, Karolinska institutet.

View Article

Download full-text PDF

Source
January 2014

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform.

Eur J Med Genet 2013 Dec 18;56(12):661-8. Epub 2013 Sep 18.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.09.003DOI Listing
December 2013

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development.

Fertil Steril 2013 Mar 7;99(3):819-826.e3. Epub 2012 Dec 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fertnstert.2012.11.016DOI Listing
March 2013

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.

Eur J Endocrinol 2013 Mar 15;168(3):331-41. Epub 2013 Feb 15.

Department of Endocrinology, Metabolism and Diabetes, D02:04, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-12-0865DOI Listing
March 2013

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis.

Int J Endocrinol 2012 28;2012:504904. Epub 2012 Feb 28.

Department of Molecular Medicine and Surgery, Karolinska Institut, Karolinska University Hospital, CMM L8:02, 17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2012/504904DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299259PMC
August 2012

Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.

J Clin Endocrinol Metab 2012 Jun;97(6):1881-3

Department of Molecular Medicine and Surgery, Karolinska Institutet/Karolinska University Hospital, SE-17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2012-1222DOI Listing
June 2012

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia.

Eur J Endocrinol 2012 Mar 9;166(3):441-9. Epub 2011 Dec 9.

Departments of Endocrinology, Metabolism and Diabetes, D02:04, Karolinska Institute, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-11-0828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290120PMC
March 2012

Congenital adrenal hyperplasia.

Authors:
Anna Wedell

Clin Biochem 2011 May;44(7):505-506

Department of Molecular Medicine and Surgery, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Sweden. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2011.02.026DOI Listing
May 2011

Molecular genetics of 21-hydroxylase deficiency.

Authors:
Anna Wedell

Endocr Dev 2011 16;20:80-87. Epub 2010 Dec 16.

Department of Molecular Medicine and Surgery, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000321223DOI Listing
March 2011

Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Eur J Endocrinol 2011 Feb 23;164(2):285-93. Epub 2010 Nov 23.

Department of Endocrinology, Metabolism and Diabetes Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institutet, SE-171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-10-0877DOI Listing
February 2011

Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins.

Evol Dev 2010 May-Jun;12(3):329-42

Department of Molecular Medicine and Surgery, CMM:02, Karolinska Institutet, SE-171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1525-142X.2010.00418.xDOI Listing
September 2010

AGC1 deficiency associated with global cerebral hypomyelination.

N Engl J Med 2009 Jul;361(5):489-95

Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa0900591DOI Listing
July 2009

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.

View Article

Download full-text PDF

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

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

J Clin Endocrinol Metab 2007 Aug 15;92(8):3305-13. Epub 2007 May 15.

Department of Molecular Medicine and Surgery, Karolinska Institutet, 17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2007-0505DOI Listing
August 2007

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development.

Clin Endocrinol (Oxf) 2007 Jun 4;66(6):822-6. Epub 2007 Apr 4.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2265.2007.02819.xDOI Listing
June 2007

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias.

Reprod Biol Endocrinol 2007 Mar 7;5. Epub 2007 Mar 7.

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

View Article

Download full-text PDF

Source
http://rbej.biomedcentral.com/articles/10.1186/1477-7827-5-8
Publisher Site
http://dx.doi.org/10.1186/1477-7827-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1821330PMC
March 2007

Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone.

J Clin Endocrinol Metab 2007 Feb 5;92(2):542-8. Epub 2006 Dec 5.

Department of Psychiatry, Karolinska Institutet/Karolinska University Hospital, 171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2006-1340DOI Listing
February 2007

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia.

J Mol Med (Berl) 2007 Mar 21;85(3):247-55. Epub 2006 Nov 21.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine (CMM) L8:02, Karolinska Institutet/Karolinska University Hospital, 17176, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00109-006-0121-xDOI Listing
March 2007

Gestational age correlates to genotype in girls with CYP21 deficiency.

J Clin Endocrinol Metab 2007 Jan 17;92(1):246-9. Epub 2006 Oct 17.

Division of Pediatrics, Department of Clinical Science, Intervention, and Technology, Karolinska Institutet, Centre for Inherited Metabolic Diseases, Karolinska University Hospital Huddinge, SE-141 86 Huddinge, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2006-1369DOI Listing
January 2007

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

Mol Endocrinol 2006 Nov 20;20(11):2946-64. Epub 2006 Jun 20.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine (CMM) L8:02, Karolinska Institutet/Karolinska University Hospital, S-17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/me.2006-0172DOI Listing
November 2006

Normal sexual development and fertility in testatin knockout mice.

Mol Cell Biol 2005 Jun;25(12):4892-902

Department of Molecular Medicine, Karolinska Institutet/Karolinska University Hospital, CMM:02, S-171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1128/MCB.25.12.4892-4902.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1140592PMC
June 2005

Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.

J Clin Endocrinol Metab 2005 Apr 28;90(4):2148-53. Epub 2004 Dec 28.

Department of Molecular Medicine, Center of Molecular Medicine (CMM) L8:02, Karolinska Institutet/Karolinska University Hospital, 171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2004-1937DOI Listing
April 2005

Prenatal treatment of congenital adrenal hyperplasia.

Eur J Endocrinol 2004 Nov;151 Suppl 3:U63-9

Department of Molecular Medicine, Karolinska Institutet, S-17176 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/eje.0.151u063DOI Listing
November 2004

Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2.

Eur J Endocrinol 2004 Jul;151(1):73-85

Department of Surgical Sciences, Section of Surgery, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/eje.0.1510073DOI Listing
July 2004

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

Int J Mol Med 2004 Feb;13(2):273-9

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University Hospital, SE-751 85 Uppsala, Sweden.

View Article

Download full-text PDF

Source
February 2004

Male sex determination and prenatal differentiation of the testis.

Endocr Dev 2003 ;5:1-23

Department of Cell and Molecular Biology, Medical Nobel Institute, Karolinska Institutet, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000069299DOI Listing
March 2004

Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia.

J Clin Endocrinol Metab 2002 Nov;87(11):5119-24

Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, S-141 86 Stockholm, Sweden.

View Article

Download full-text PDF

Source
https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2001-011531DOI Listing
November 2002

Novel mutations in CYP21 detected in individuals with hyperandrogenism.

J Clin Endocrinol Metab 2002 Jun;87(6):2824-9

Department of Molecular Medicine, CMM (L8:02), Karolinska Hospital, 171 76 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jcem.87.6.8525DOI Listing
June 2002

Isolation of the human testatin gene and analysis in patients with abnormal gonadal development.

Mol Hum Reprod 2002 Jan;8(1):8-15

Department of Cell and Molecular Biology, Medical Nobel Institute, SE-171 77 Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molehr/8.1.8DOI Listing
January 2002