G. Annéren

发表

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

M. Vihinen, S. Ekvall, K. Sjörs, 2014, American journal of medical genetics. Part A.

Mitochondrial enzyme deficiencies in Down's syndrome

J. Prince, G. Annéren, S. Jia, 1994, Journal of neural transmission. Parkinson's disease and dementia section.

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: clinical reports and review of the literature.

G. Annéren, S. Meurling, L. Olsen, 1991, American journal of medical genetics.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

K. Friend, M. Shaw, E. Haan, 2015, Molecular Psychiatry.

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

I. Simonic, H. Firth, J. Vermeesch, 2013, European journal of medical genetics.

Cardio‐facio‐cutaneous syndrome: Does genotype predict phenotype?

J. Allanson, H. Cavé, K. Gripp, 2011, American journal of medical genetics. Part C, Seminars in medical genetics.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

T. Gilliam, G. Penchaszadeh, O. Evgrafov, 1997, American journal of human genetics.

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

V. Kalscheuer, S. Ekvall, G. Annéren, 2019, Scientific Reports.

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

J. Allanson, S. Ekvall, G. Annéren, 2011, American journal of medical genetics. Part A.

Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene

I. Dianzani, G. Annéren, N. Dahl, 2003, Journal of medical genetics.

Preventive medical care.

G. Annéren, S. Pueschel, 1996 .

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

E. Legius, S. Ekvall, G. Annéren, 2015, BMC Medical Genetics.

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders

S. Ekvall, G. Annéren, M. Bondeson, 2008, Journal of Medical Genetics.

Sickness absence in Swedish parents of children with Down's syndrome: relation to self-perceived health, stress and sense of coherence.

G. Annéren, K. Wikblad, G. Hedov, 2006, Journal of intellectual disability research : JIDR.

Swedish parents of children with Down's syndrome.

G. Annéren, K. Wikblad, G. Hedov, 2002, Scandinavian journal of caring sciences.

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

B. Teh, A. Nordgren, C. Ruivenkamp, 2005, European Journal of Human Genetics.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia

H. Willard, G. Annéren, J. Chelly, 1999, European Journal of Human Genetics.

Thyroid dysfunction in Down’s syndrome: relation to age and thyroid autoimmunity

G. Annéren, S. Ivarsson, J. Gustafsson, 1998, Archives of disease in childhood.

A novel nonsense mutation of the mineralocorticoid receptor gene in a Swedish family with pseudohypoaldosteronism type I (PHA1).

G. Annéren, M. Bondeson, J. Mårtensson, 2004, The Journal of clinical endocrinology and metabolism.

Epidemiology of birthweight

G. Annéren, J. Gustafsson, B. Ollars, 2002, Archives of disease in childhood.

Utilization of medical care among children with Down's syndrome.

G. Annéren, C. Sundelin, P. Drott, 2002, Journal of intellectual disability research : JIDR.

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

C. Wadelius, L. Zech, K. Sjörs, 2002, Annales de genetique.

Growth hormone therapy in young children with Down syndrome and a clinical comparison of Down and Prader-Willi syndromes.

G. Annéren, T. Tuvemo, J. Gustafsson, 2000, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Growth and pubertal development in Down syndrome

G. Annéren, H. Arnell, S. Ivarsson, 1996, Acta paediatrica.

in Down ' s syndrome . responses to growth hormone Growth and somatomedin

G. Annéren, K. Hall, T. Tuvemo, 2022 .

Celiac disease in relation to immunologic serum markers, trace elements, and HLA-DR and DQ antigens in Swedish children with Down syndrome.

L. Klareskog, G. Annéren, Lars Klareskog, 1999, Journal of pediatric gastroenterology and nutrition.

Increased glutathione peroxidase activity in erythrocytes in patients with Alzheimer's disease/senile dementia of Alzheimer's type

G. Annéren, T. Lundin, A. Gardner, 1986, Acta neurologica Scandinavica.

Autoimmune Phenotype Thymus, a Possible Contributor to an Regulator in Infant Down Syndrome Altered Expression of Autoimmune

E. Telemo, G. Annéren, O. Kämpe, 2014 .

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS)

A. Ameur, S. Ekvall, G. Annéren, 2015, Journal of Medical Genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis.

C. Wadelius, U. Pettersson, G. Annéren, 1989, American journal of human genetics.

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.

G. Annéren, J. Andrieux, B. Delobel, 2013, European journal of medical genetics.

Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304).

G. Holmgren, U. Pettersson, E. Seemanová, 1989, American journal of human genetics.

Swedish survey on extra structurally abnormal chromosomes in 39 105 consecutive prenatal diagnoses: Prevalence and characterization by fluorescence in situ hybridization

E. Blennow, G. Annéren, M. Nordenskjöld, 1994, Prenatal diagnosis.

Characterization of supernumerary ring marker chromosomes by fluorescence in situ hybridization (FISH).

E. Blennow, G. Annéren, M. Nordenskjöld, 1993, American journal of human genetics.

Normal growth hormone secretion in overweight young adults with Down syndrome.

G. Annéren, M. Stridsberg, J. Gustafsson, 2010, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

G. Annéren, N. Dahl, P. Zetterqvist, 1995, Clinical genetics.

Increased Plasma and Erythrocyte Selenium Concentrations but Decreased Erythrocyte Glutathione Peroxidase Activity after Selenium Supplementation in Children with Down Syndrome

G. Annéren, K. Gustavson, M. Gebre‐Medhin, 1989, Acta paediatrica Scandinavica.

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

G. Annéren, H. Arnell, A. Németh, 1997, Human Genetics.

Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene

C. Wadelius, G. Annéren, A. Larsson, 1997, Human Genetics.

Preventing neural tube defects in Europe: a missed opportunity.

A. Berghold, S. Bianca, B. Gener, 2005, Reproductive toxicology.

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

E. Blennow, S. Kitsiou‐Tzeli, A. Tsezou, 1998, European Journal of Human Genetics.

The Swedish Birth Defects Registry: Ascertainment and incidence of spina bifida and cleft lip/palate

G. Annéren, O. Axelsson, H. Amini, 2009, Acta obstetricia et gynecologica Scandinavica.

Caffeine intake and the risk of first-trimester spontaneous abortion.

L. Signorello, J. Mclaughlin, W. Blot, 2000, The New England journal of medicine.

Caffeine Metabolism and the Risk of Spontaneous Abortion of Normal Karyotype Fetuses

L. Signorello, J. Mclaughlin, W. Blot, 2001, Obstetrics and gynecology.

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

G. Annéren, N. Dahl, A. Sillén, 1998, Human mutation.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Z. Tümer, L. Vallée, S. Tinschert, 2012, European journal of medical genetics.

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3).

G. Annéren, J. Wahlström, P. Gustavsson, 1999, American journal of medical genetics.

Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy.

S. Cnattingius, G. Annéren, A. Stavreus-Evers, 2011, Fertility and sterility.

Chromosomal anomalies in first‐trimester miscarriages

S. Cnattingius, G. Annéren, C. Lundin, 2005, Acta obstetricia et gynecologica Scandinavica.

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

L. Lannfelt, J. Johnston, G. Annéren, 1996, Brain research. Molecular brain research.

Gene Dosage Effects in Down Syndrome—With Special Reference to the Superoxide Dismutase Gene

G. Annéren, 1989 .

Normalized growth velocity in children with Down's syndrome during growth hormone therapy.

G. Annéren, T. Tuvemo, J. Gustafsson, 2008, Journal of intellectual disability research : JIDR.

Partial Trisomy 3q (3q25→qter) Syndrome in Two Siblings

G. Annéren, K. Gustavson, 1984, Acta paediatrica Scandinavica.

Maternal and neonatal factors and mortality in children with Down syndrome born in 1973–1980 and 1995–1998

G. Annéren, P. O. Olausson, C. Sundelin, 2004, Acta paediatrica.

Clinical variability of the 22q11.2 duplication syndrome.

G. Annéren, A. Thuresson, M. Fernström, 2008, European journal of medical genetics.

Interstitial Deletions at 6q14.1–q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype

G. Annéren, S. Lynch, E. Stattin, 2010, Molecular Syndromology.

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

S. Ekvall, G. Annéren, G. Holmström, 2009, Clinical genetics.

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

G. Annéren, B. Jonsson, J. Gustafsson, 2013, American journal of medical genetics. Part A.

Differential effect of selenium supplementation on immunoglobulin levels in Down's syndrome

G. Annéren, S. Nordvall, C. G. Magnusson, 1997, Acta paediatrica.

Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta

M. Jansson, G. Annéren, R. McMahon, 2005, Transplantation.

Ectrodactyly‐ectodermal dysplasiaclefting syndrome (EEC): the clinical variation and prenatal diagnosis

G. Annéren, P. Lindgren, T. Andersson, 1991 .

Abnormal serum IgG subclass pattern in children with Down's syndrome.

G. Annéren, G. Lilja, S. Nordvall, 1992, Archives of disease in childhood.

Increase in serum concentrations of IgG2 and IgG4 by selenium supplementation in children with Down's syndrome.

G. Annéren, S. Nordvall, C. G. Magnusson, 1990, Archives of disease in childhood.

Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene.

G. Annéren, B. Edman, 1993, APMIS. Supplementum.

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

M. Huss, J. Bergquist, G. Annéren, 2019, Molecular Neurobiology.

Gamma‐glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism

M. Macek, G. Annéren, K. Gustavson, 1987, Clinical Genetics.

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

L. Brown, D. Page, A. de la Chapelle, 1987, American journal of human genetics.

Increased frequency of tetraploidy in cultured skin fibroblasts from extremities with reduction malformations.

G. Annéren, 2008, Hereditas.

A Boy with Complete Triploidy and Unusually Long Survival

G. Annéren, A. Brun, C. Arvidsson, 1986, Acta paediatrica Scandinavica.

Gastroschisis and associated defects: An international study

Lyubov Yevtushok, Pierpaolo Mastroiacovo, Fabrizio Bianchi, 2007, American journal of medical genetics. Part A.

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

Wladimir Wertelecki, Guido Cocchi, Pierpaolo Mastroiacovo, 2010, American journal of medical genetics. Part A.

S‐100 protein and neuron‐specific enolase in amniotic fluid as markers of abdominal wall and neural tube defects in the fetus

G. Annéren, L. Olsen, S. Påhlman, 1988, Prenatal diagnosis.

Low Superoxide Levels in Blood Phagocytic Cells in Down's Syndrome

G. Annéren, B. Bjorkstén, 1984, Acta paediatrica Scandinavica.

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

G. Annéren, J. Gronowitz, C. Källander, 2004, Human Genetics.

The genetics of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q.

M. Sundvall, U. Pettersson, G. Annéren, 1997, Journal of medical genetics.

J. Ludvigsson, B. Åsling, G. Annéren, 2005, European Journal of Human Genetics.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

G. Annéren, N. Dahl, M. Shahsavani, 2020, Clinical Epigenetics.

X-linked recessive fusion of metacarpals IV and V and hypoplastic metacarpal V.

G. Annéren, A. Amilon, 1994, American journal of medical genetics.

Deletion of chromosome 21 in a girl with congenital hypothyroidism and mild mental retardation.

G. Annéren, R. Sidenvall, B. Ahlbom, 1996, American journal of medical genetics.

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

E. Blennow, J. Dumanski, G. Annéren, 2002, Human Genetics.

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

D. Cox, S. Pulst, C. Epstein, 1991, Human Genetics.

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

A. Ameur, G. Annéren, M. Bondeson, 2017, Prenatal diagnosis.

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

P. Ellis, J. Dumanski, G. Annéren, 2007, Cytogenetic and Genome Research.

Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype.

Sixto García-Miñaur, Sally Ann Lynch, Göran Annerén, 2011, American journal of human genetics.

Two cases of 11p13 interstitial deletion and unusual clinical features

G. Annéren, K. Gustavson, L. Wranne, 1984 .

Frequency of holoprosencephaly in the International Clearinghouse Birth Defects Surveillance Systems: searching for population variations.

Alice Maraschini, Guido Cocchi, Pierpaolo Mastroiacovo, 2008, Birth defects research. Part A, Clinical and molecular teratology.

Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation.

C. Wadelius, G. Annéren, A. Sillén, 1998, American journal of medical genetics.

Subtelomeric rearrangements detected in patients with idiopathic mental retardation.

E. Blennow, G. Annéren, J. Schoumans, 2002, American journal of medical genetics.

A fragile secondary constriction on chromosome 2 in five patients with different clinical features.

G. Annéren, K. Gustavson, 2009, Hereditas.

Growth and somatomedin responses to growth hormone in Down's syndrome.

G. Annéren, K. Hall, T. Tuvemo, 1986, Archives of disease in childhood.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Investigation of gene dosage imbalances in patients with Noonan syndrome using multiplex ligation-dependent probe amplification analysis.

E. Legius, E. Denayer, S. Ekvall, 2010, European journal of medical genetics.

Flow cytometric karyotyping of mammals, using blood lymphocytes: detection and analysis of chromosomal abnormalities.

G. Annéren, I. Gustavsson, P. Matsson, 2008, Hereditas.

Growth hormone treatment in young children with Down’s syndrome: effects on growth and psychomotor development

G. Annéren, T. Tuvemo, P. Bang, 1999 .

Mortality in Down's syndrome in relation to congenital malformations.

F. Rasmussen, G. Annéren, B. Lundell, 1999, Journal of intellectual disability research : JIDR.

Self-perceived health in Swedish parents of children with Down's syndrome

G. Annéren, K. Wikblad, G. Hedov, 2004, Quality of Life Research.

International trends of Down syndrome 1993-2004: Births in relation to maternal age and terminations of pregnancies.

Guido Cocchi, Pierpaolo Mastroiacovo, Björn Jonsson, 2010, Birth defects research. Part A, Clinical and molecular teratology.

Incidence of Down's syndrome in Sweden during the years 1968-1977.

F. Mitelman, J. Lindsten, G. Annéren, 1981, Human genetics. Supplement.

The impact of thyroid autoimmunity in children and adolescents with Down syndrome

G. Annéren, J. Gustafsson, U. Ericsson, 1997, Acta paediatrica.

Increased neonatal thyrotropin in Down syndrome

G. Annéren, J. Gustafsson, C. Guthenberg, 2009, Acta paediatrica.

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

G. Annéren, O. Kämpe, O. Ekwall, 2006, Acta paediatrica.

Altered Expression of Autoimmune Regulator in Infant Down Syndrome Thymus, a Possible Contributor to an Autoimmune Phenotype

E. Telemo, G. Annéren, O. Kämpe, 2014, The Journal of Immunology.

Late effects of early growth hormone treatment in Down syndrome

G. Annéren, J. Gustafsson, F. Nyberg, 2010, Acta paediatrica.

Protocols to establish genotype-phenotype correlations in Down syndrome.

E. Courchesne, C. Epstein, J. Korenberg, 1991, American journal of human genetics.

[Children and adolescents with Down syndrome. Continuous ophthalmological monitoring crucial!].

G. Annéren, G. Holmström, Birgitta Jönelid, 2002, Lakartidningen.

Clinical and molecular characterization of individuals with 18p deletion: A genotype–phenotype correlation

G. Annéren, M. Bondeson, U. Wester, 2006, American journal of medical genetics. Part A.

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

A. Nordgren, A. Lindstrand, G. Annéren, 2019, Clinical genetics.

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

A. Nordgren, G. Annéren, E. Sahlin, 2014, PloS one.

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

G. Annéren, A. Thuresson, C. Wentzel, 2014, European journal of medical genetics.

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

C. Wadelius, G. Annéren, N. Dahl, 1992, Prenatal diagnosis.

Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21).

G. Annéren, N. Dahl, J. Schuster, 2020, Stem cell research.

Neonatal polycythaemia in Down syndrome (short communication).

G. Annéren, 1994, Upsala journal of medical sciences.

Autism needs to be considered in children with Down Syndrome

G. Annéren, E. Fernell, J. Westerlund, 2019, Acta paediatrica.

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

G. Annéren, M. Bondeson, P. Gómez-Puertas, 2019, European journal of medical genetics.

A severe form of Noonan syndrome and autosomal dominant café‐au‐lait spots – evidence for different genetic origins

S. Ekvall, G. Annéren, M. Bondeson, 2009, Acta paediatrica.

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

A. Jonzon, G. Annéren, J. Sunnegårdh, 2004, Cardiology in the Young.

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

O. Mäkitie, A. Nordgren, N. Ahituv, 2014, Molecular genetics & genomic medicine.

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

L. Feuk, A. Ameur, G. Annéren, 2015, Cellular reprogramming.

TRISOMY 9 SYNDROME

G. Annéren, G. Sedin, 1981 .

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

G. Annéren, K. Gustavson, 1982, Clinical genetics.

Abnormalities of the cerebellum in oro‐facio‐digital syndrome II (Mohr syndrome)

G. Annéren, S. Jóźwiak, K. Gustavson, 1990, Clinical genetics.

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

G. Annéren, K. Gustavson, 2009, Hereditas.

Antitissue Transglutaminase and Antithyroid Autoantibodies in Children with Down Syndrome and Celiac Disease

L. Klareskog, G. Annéren, I. Dahlbom, 2005, Journal of pediatric gastroenterology and nutrition.

Case report. Trisomy 9 syndrome.

G. Annéren, G. Sedin, 1981, Acta paediatrica Scandinavica.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

Hypervariable allelic expression patterns of the imprinted IGF2 gene in tumor cells

R. Ohlsson, C. Walsh, G. Annéren, 1998, Oncogene.

Environmental Tobacco Smoke and Risk of Spontaneous Abortion

S. Cnattingius, F. Granath, G. Annéren, 2006, Epidemiology.

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

C. Ruivenkamp, G. Annéren, J. Andrieux, 2011, European Journal of Human Genetics.

Increase in β-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome

K. Blennow, J. Wiltfang, L. Lannfelt, 2007, Dementia and Geriatric Cognitive Disorders.

Chromosome aberrations in an alpha‐fetoprotein‐producing hepatoblastoma

G. Annéren, F. Hedborg, H. Nordlinder, 1992, Genes, chromosomes & cancer.

Linkage mapping of a severe X-linked mental retardation syndrome.

C. Wadelius, M. Sundvall, U. Pettersson, 1993, American journal of human genetics.

Duplication 16q12.1-q22.1 characterized by array CGH in a girl with spina bifida.

Å. Borg, J. Staaf, G. Annéren, 2007, European Journal of Medical Genetics.

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

C. Wadelius, G. Annéren, R. Saalman, 2003, Annales de genetique.

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

C. Gillberg, C. Betancur, E. Green, 2001, American journal of medical genetics.

Selenium in Plasma and Erythrocytes in Patients with Down's Syndrome and Healthy Controls

G. Annéren, L. Plantin, K. Gustavson, 1985, Acta paediatrica Scandinavica.

Marker chromosomes in parents to children with Down's syndrome

N. Tommerup, G. Annéren, J. Wahlström, 1984, Clinical genetics.

Trisomy 4q31----qter due to a maternal 4/8 translocation.

G. Annéren, P. Lübeck, 2008, Hereditas.

Growth hormone treatment in young children with Down’s syndrome: effects on growth and psychomotor development

G. Annéren, T. Tuvemo, P. Bang, 1999, Archives of disease in childhood.

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

G. Annéren, O. Axelsson, P. Lindgren, 2016, Journal of Community Genetics.

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.

Elizabeth S Wohler, G. Cutting, D. Batista, 2011, European journal of medical genetics.

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

G. Annéren, K. Gustavson, S. Jagell, 1984 .

New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death.

G. Annéren, N. Dahl, H. Malmgren, 1993, American journal of medical genetics.

Subtelomeric rearrangements detected by FISH in patients with idiopatic mental retardation

E. Blennow, G. Annéren, M. Nordenskjöld, 1999 .

Somatomedins in Down's syndrome.

L. Wetterberg, G. Annéren, K. Hall, 1983, Biological psychiatry.

Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone.

G. Annéren, T. Tuvemo, K. Gustavson, 2005, American journal of medical genetics. Supplement.

The presence of normal levels of serum immunoreactive insulin-like growth factor 2 (IGF-2) in patients with Down's syndrome.

G. Annéren, G. Enberg, V. Sara, 1984, Upsala journal of medical sciences.

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

G. Annéren, O. Axelsson, P. Lindgren, 2016, Journal of Community Genetics.

Prevalence of autism and attention‐deficit–hyperactivity disorder in Down syndrome: a population‐based study

G. Annéren, E. Fernell, J. Gustafsson, 2017, Developmental medicine and child neurology.

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

R. G. C. C. L. Cardenas, B. Dallapiccola, K. Lachlan, 2016, Genetics and molecular biology.

Linkage analysis identifies the thyroglobulin gene region as a major locus for familial congenital hypothyroidism

C. Wadelius, G. Annéren, A. Larsson, 2002, Human Genetics.

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

C. Wadelius, G. Annéren, P. Fagerholm, 1991, Acta ophthalmologica.

The presence of normal receptors for somatomedin and insulin in fetuses with Down's syndrome.

L. Wetterberg, G. Annéren, K. Hall, 1984, Biological psychiatry.

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

V. Kalscheuer, S. Ekvall, G. Annéren, 2019, Scientific Reports.

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

F. Muntoni, F. Cucca, A. Fry, 2019, Clinical genetics.

Title : Exome sequencing in Crisponi / CISS-like individuals reveals unpredicted alternative diagnoses

F. Muntoni, F. Cucca, A. Fry, 2019 .

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

G. Annéren, O. Axelsson, P. Lindgren, 2015, Acta obstetricia et gynecologica Scandinavica.

Trace Element Profiles in Individual Blood Cells from Patients with Down's Syndrome

U. Lindh, G. Annéren, E. Johansson, 1985, Acta paediatrica Scandinavica.

Linkage analysis in properdin deficiency families: refined location in proximal Xp

C. Wadelius, A. Sjöholm, M. Sundvall, 1992, Clinical genetics.

Midwives and information on prenatal testing with focus on Down syndrome

G. Annéren, O. Axelsson, C. Ingvoldstad, 2015, Prenatal diagnosis.

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

G. Annéren, E. Fernell, J. Westerlund, 2019, Neuropsychiatric disease and treatment.

First information and support provided to parents of children with Down syndrome in Sweden: clinical goals and parental experiences

G. Annéren, K. Wikblad, G. Hedov, 2002, Acta paediatrica.

A medical care and support program for families with multiple congenital anomalies-mental retardation syndromes (MCA/MR).

G. Annéren, 1987, Upsala journal of medical sciences. Supplement.

Surgical Implications of Congenital Chloride Diarrhoea

G. Annéren, U. Ewald, T. Esscher, 1983, Zeitschrift fur Kinderchirurgie : organ der Deutschen, der Schweizerischen und der Osterreichischen Gesellschaft fur Kinderchirurgie = Surgery in infancy and childhood.

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

J. Korenberg, C. Wadelius, L. Zech, 1996, American journal of medical genetics.

Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformation

G. Annéren, N. Dahl, G. Läckgren, 2006, Human Genetics.

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

A. Ameur, M. Vihinen, A. Nordgren, 2023, European journal of human genetics : EJHG.

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing

A. Ameur, G. Annéren, M. Bondeson, 2023, Scientific reports.

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

G. Annéren, 2011 .

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

G. Annéren, N. Dahl, L. Janols, 1995, American journal of medical genetics.