K. Göran Annerén: search on Z-Library

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1

Molecular analysis of chromosome 21 in a patient with a phenotype of down syndrome and apparently normal karyotype

Ahlbom, Bodil Edman, Goetz, Peter, Korenberg, Julie R., Pettersson, Ulf, Seemanova, Eva, Wadelius, Claes, Zech, Lore, Annerén, Göran

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 669 KB

1996

2

An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study

Wester Oxelgren, Ulrika, Westerlund, Joakim, Myrelid, Åsa, Annerén, Göran, Johansson, Lotta, Åberg, Marie, Gustafsson, Jan, Fernell, Elisabeth

Journal:

Neuropsychiatric Disease and Treatment

Year:

2019

Language:

english

File:

PDF, 582 KB

english, 2019

3

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome

Schoumans, Jacqueline, Nordgren, Ann, Ruivenkamp, Claudia, Brøndum-Nielsen, Karen, Teh, Bin Tean, Annéren, Göran, Holmberg, Eva, Nordenskjöld, Magnus, Anderlid, Britt-Marie

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 73 KB

english, 2004

4

How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Emanuele Leoncini, Lorenzo D. Botto, Guido Cocchi, Goran Annerén, Carol Bower, Jane Halliday, Emmanuelle Amar, Marian K. Bakker, Sebastiano Bianca, Maria Aurora Canessa Tapia, Eduardo E. Castilla, Mel

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

5

Changes in mortality and causes of death in the Swedish Down syndrome population

Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 501 KB

english, 2013

6

Caffeine Intake and the Risk of First-Trimester Spontaneous Abortion

Cnattingius, Sven, Signorello, Lisa B., Annerén, Göran, Clausson, Britt, Ekbom, Anders, Ljunger, Elisabeth, Blot, William J., McLaughlin, Joseph K., Petersson, Gunnar, Rane, Anders, Granath, Fredrik

Journal:

Boston Medical and Surgical Journal

Year:

2000

Language:

english

File:

PDF, 100 KB

english, 2000

7

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

Dr. Göran Annerén, Niklas Dahl, Ulrika Uddenfeldt, Lars-Olof Janols

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 125 KB

english, 1995

8

Mothers of children with Down syndrome have higher herpes simplex virus type 2 (HSV-2) antibody levels

Göran Annerén, J. S. Gronowitz, C. F. R. Källander, Vivi-Anne Sundqvist

Journal:

Year:

1986

Language:

english

File:

PDF, 595 KB

english, 1986

9

Chromosomal anomalies in first-trimester miscarriages

Elisabeth Ljunger, Sven Cnattingius, Catarina Lundin, Göran Annerén

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2005

Language:

english

File:

PDF, 66 KB

english, 2005

10

Trisomy 4q syndrome: presentation of a new case and review of the literature

Catarina Lundin, Lore Zech, Kerstin Sjörs, Claes Wadelius, Göran Annerén

Journal:

Annales de Génétique

Year:

2002

Language:

english

File:

PDF, 128 KB

english, 2002

11

Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21–q22

Henrik Arnell, Antal Nemeth, Göran Annerén, N. Dahl

Journal:

Year:

1997

Language:

english

File:

PDF, 47 KB

english, 1997

12

Unbalanced translocation 9;16 in two children with dysmorphic features, and severe developmental delay: Evidence of cross-over within derivative chromosome 9 in patient #1

Regina M. Zambrano, Elizabeth Wohler, Göran Annerén, Ann-Charlotte Thuresson, Garry R. Cutting, Denise A. Batista

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 903 KB

english, 2011

13

Subtelomeric rearrangements detected in patients with idiopathic mental retardation

Britt-Marie Anderlid, Jacqueline Schoumans, Göran Annerén, Sigrid Sahlén, Mårten Kyllerman, Mihailo Vujic, Bengt Hagberg, Elisabeth Blennow, Magnus Nordenskjöld

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 562 KB

english, 2002

14

Severe psychomotor retardation in a boy with a supernumerary derivative chromosome resulting in partial trisomy 21 and partial trisomy 7p

Bodil Edman Ahlbom, Jan Wahlström, Robert Saalman, Claes Wadelius, Göran Annerén

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

15

Information and knowledge about Down syndrome among women and partners after first trimester combined testing

Ternby, Ellen, Ingvoldstad, Charlotta, Annerén, Göran, Lindgren, Peter, Axelsson, Ove

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2015

Language:

english

File:

PDF, 156 KB

english, 2015

16

Mutation inNRASin familial Noonan syndrome – case report and review of the literature

Ekvall, Sara, Wilbe, Maria, Dahlgren, Jovanna, Legius, Eric, van Haeringen, Arie, Westphal, Otto, Annerén, Göran, Bondeson, Marie-Louise

Journal:

BMC Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1018 KB

english, 2015

17

Midwives and information on prenatal testing with focus on Down syndrome

Ternby, Ellen, Ingvoldstad, Charlotta, Annerén, Göran, Axelsson, Ove

Journal:

Prenatal Diagnosis

Year:

2015

Language:

english

File:

PDF, 252 KB

english, 2015

18

Why do pregnant women accept or decline prenatal diagnosis for Down syndrome?

Ternby, Ellen, Axelsson, Ove, Annerén, Göran, Lindgren, Peter, Ingvoldstad, Charlotta

Journal:

Journal of Community Genetics

Year:

2016

Language:

english

File:

PDF, 263 KB

english, 2016

19

PC-based system for classifying dysmorphic syndromes in children

Fred Wiener, Göran Annerén

Journal:

Computer Methods and Programs in Biomedicine

Year:

1989

Language:

english

File:

PDF, 604 KB

english, 1989

20

A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: Molecular analysis of the chromosome 7 breakpoint

Dmitry Tentler, Göran Brandberg, Catalina Betancur, Christopher Gillberg, Göran Annerén, Christina Orsmark, Eric D Green, Birgit Carlsson, Niklas Dahl

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 268 KB

english, 2001

21

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

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

Journal:

Clinical Genetics

Year:

2019

File:

PDF, 28.87 MB

2019

22

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

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

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 28.87 MB

english, 2019

23

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype

Sara Ekvall, Lars Hagenäs, Judith Allanson, Göran Annerén, Marie-Louise Bondeson

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.95 MB

english, 2011

24

Erratum to “Preventing neural tube defects in Europe: A missed opportunity” [Reprod. Toxicol. 20 (2005) 393–402]

Araceli Busby, Lenore Abramsky, Helen Dolk, Ben Armstrong, Marie-Claude Addor, Goran Anneren, Nicola Armstrong, Andre Baguette, Ingeborg Barisic, Andrea Berghold, Sebastiano Bianca, Paula Braz, Elisa

Journal:

Reproductive Toxicology

Year:

2006

Language:

english

File:

PDF, 54 KB

english, 2006

25

Trisomy 22 syndrome in a 26-year-old female—A follow-up examination

GöRAN ANNERÉN, KARL-HENRIK GUSTAVSON

Journal:

Year:

1981

Language:

english

File:

PDF, 404 KB

english, 1981

26

Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy

Claes Wadelius, Göran Annéren, Niklas Dahl, Gösta Holmgren, Karl-Henrik Gustavson

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 189 KB

english, 1991

27

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling

Schuster, Jens, Halvardson, Jonatan, Lorenzo, Laureanne Pilar, Ameur, Adam, Sobol, Maria, Raykova, Doroteya, Annerén, Göran, Feuk, Lars, Dahl, Niklas

Journal:

Cellular Reprogramming (Formerly "Cloning and Stem Cells")

Year:

2015

Language:

english

File:

PDF, 723 KB

english, 2015

28

Thyroid antibodies are not a risk factor for pregnancies with down syndrome

Jan Gustafsson, Göran Annerén, Ulla-Britt Ericsson, Lars Svanberg, Sten A. Ivarsson

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 318 KB

english, 1995

29

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Vassilopoulos, Dimitris, Avramopoulos, Dimitris, Grigoriadou, Maria, Albrecht, Beate, Passarge, Eberhard, Annerén, Göran, Blennow, Elisabeth, Karadima, Georgia, Bugge, Merete, Nicolaidis, Peter

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 68 KB

english, 1998

30

The Presence of Normal Levels of Serum Immunoreactive Insulin-like Growth Factor 2 (IGF-2) in Patients with Down's Syndrome

Annerén, Göran, Enberg, Gösta, Sara, Vicki R.

Journal:

Upsala Journal of Medical Sciences

Year:

1984

Language:

english

File:

PDF, 419 KB

english, 1984

31

Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (norrbottnian type)

Dr Niklas Dahl, Claes Wadelius, Göran Annerén, Karl-Henrik Gustavson

Journal:

Prenatal Diagnosis

Year:

1992

Language:

english

File:

PDF, 357 KB

english, 1992

32

Genetics of Mental Retardation – An Overview Encompassing Learning Disability and Intellectual Disability

Göran Annerén

Journal:

Acta Paediatrica

Year:

2011

Language:

english

File:

PDF, 74 KB

english, 2011

33

Prader-Willi syndrome in a child with a balanced (X;15) de novo translocation

Karl-Henrik Gustavson, Göran Annerén, Sten Jagell

Journal:

Clinical Genetics

Year:

1984

Language:

english

File:

PDF, 259 KB

english, 1984

34

A maternal de novo non-reciprocal translocation results in a 6q13-q16 deletion in one offspring and a 6q13-q16 duplication in another

Wentzel, Christian, Annerén, Göran, Thuresson, Ann-Charlotte

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 2.17 MB

english, 2014

35

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome

Ekvall, Sara, Sjörs, Kerstin, Jonzon, Anders, Vihinen, Mauno, Annerén, Göran, Bondeson, Marie-Louise

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

36

Long-term survival in children with atrioventricular septal defect and common atrioventricular valvar orifice in Sweden

Frid, Christina, Björkhem, Gudrun, Jonzon, Anders, Sunnegårdh, Jan, Annerén, Göran, Lundell, Bo

Journal:

Cardiology in the Young

Year:

2004

Language:

english

File:

PDF, 103 KB

english, 2004

37

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

Gudmundsson, Sanna, Wilbe, Maria, Filipek-Górniok, Beata, Molin, Anna-Maja, Ekvall, Sara, Johansson, Josefin, Allalou, Amin, Gylje, Hans, Kalscheuer, Vera M., Ledin, Johan, Annerén, Göran, Bondeson, M

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 2.05 MB

english, 2019

38

Gastroschisis and associated defects: An international study

Pierpaolo Mastroiacovo, Alessandra Lisi, Eduardo E. Castilla, María-Luisa Martínez-Frías, Eva Bermejo, Lisa Marengo, Jim Kucik, Csaba Siffel, Jane Halliday, Miriam Gatt, Göran Annerèn, Fabrizio Bianch

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 224 KB

english, 2007

39

Noonan syndrome and related disorders: a matter of dysregulated ras signalling

Göran Annerén

Journal:

Acta Paediatrica

Year:

2009

Language:

english

File:

PDF, 88 KB

english, 2009

40

A new quantitative solution hybridisation-RNase protection assay for APP and APLP2 mRNA

Janet A Johnston, Svante Norgren, Göran Annerén, Richard F Cowburn, Lars Lannfelt

Journal:

Molecular Brain Research

Year:

1996

Language:

english

File:

PDF, 222 KB

english, 1996

41

A novel mutation (C201R) in the transmembrane domain of connexin 32 in severe x-linked charcot-marie-tooth disease

Anna Sillén, Göran Annerén, Niklas Dahl

Journal:

Year:

1998

Language:

english

File:

PDF, 302 KB

english, 1998

42

Deletion of chromosome 21 and normal intelligence: molecular definition of the lesion

Julie R. Korenberg, Dagmar K. Kalousek, Goran Anneren, Stefan-M. Pulst, Judith G. Hall, Charles J. Epstein, David R. Cox

Journal:

Year:

1991

Language:

english

File:

PDF, 833 KB

english, 1991

43

Lowe's oculocerebrorenal syndrome - variation in lens changes in the carrier state

Per Fagerholm, Göran Annerén, Claes Wadelius

Journal:

Acta Ophthalmologica (Blackwell)

Year:

1991

Language:

english

File:

PDF, 236 KB

english, 1991

44

A boy with proximal trisomy 15 and a male foetus with distal trisomy 15 due to a familial 13p;15q translocation

Göran Annerén, Karl-Henrik Gustavson

Journal:

Clinical Genetics

Year:

1982

Language:

english

File:

PDF, 354 KB

english, 1982

45

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature

Gudmundsson, Sanna, Annéren, Göran, Marcos-Alcalde, Íñigo, Wilbe, Maria, Melin, Malin, Gómez-Puertas, Paulino, Bondeson, Marie-Louise

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

46

More severe intellectual disability was found in teenagers than younger children with Down syndrome

Wester Oxelgren, Ulrika, Myrelid, Åsa, Annerén, Göran, Westerlund, Joakim, Gustafsson, Jan, Fernell, Elisabeth

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 398 KB

english, 2018

47

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

Sobol, Maria, Klar, Joakim, Laan, Loora, Shahsavani, Mansoureh, Schuster, Jens, Annerén, Göran, Konzer, Anne, Mi, Jia, Bergquist, Jonas, Nordlund, Jessica, Hoeber, Jan, Huss, Mikael, Falk, Anna, Dahl,

Journal:

Molecular Neurobiology

Year:

2019

Language:

english

File:

PDF, 6.54 MB

english, 2019

48

Autism needs to be considered in children with Down syndrome

Wester Oxelgren, Ulrika, Åberg, Marie, Myrelid, Åsa, Annerén, Göran, Westerlund, Joakim, Gustafsson, Jan, Fernell, Elisabeth

Journal:

Acta Paediatrica

Year:

2019

Language:

english

File:

PDF, 758 KB

english, 2019

49

Donor chimerism across full allogenic barriers achieved by in utero transplantation of fetal mesenchymal stem cells in a case of osteogenesis imperfecta

Lars Westgren, Göran Anneren, Ove Axelsson, Uwe Evald, Katarina LeBlanc, Olle Ringden

Journal:

American Journal of Obstetrics and Gynecology

Year:

2003

Language:

english

File:

PDF, 47 KB

english, 2003

50

Autoantibodies linked to autoimmune polyendocrine syndrome type I are prevalent in Down syndrome

ANNIKA SÖDERBERGH, JAN GUSTAFSSON, OLOV EKWALL, ÅSA HALLGREN, TOMAS NILSSON, OLLE KÄMPE, FREDRIK RORSMAN, GÖRAN ANNERÉN

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 53 KB

english, 2006

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