Publications in DiVA – Göran Annerén

A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

Johansson, Josefin; Lidéus, Sarah; Höijer, Ida; Ameur, Adam et al.

Part of Scientific Reports, 2023.

DOI for A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing Download full text (pdf) of A novel quantitative targeted analysis of X-chromosome Inactivation (XCI) using Nanopore sequencing

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

Laan, Loora; Klar, Joakim; Sobol, Maria; Hoeber, Jan et al.

Part of Clinical Epigenetics, 2020.

DOI for DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors Download full text (pdf) of DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

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

Schuster, Jens; Hoeber, Jan; Sobol, Maria; Fatima, Ambrin et al.

Part of Stem Cell Research, 2020.

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

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

Gudmundsson, Sanna; Annerén, Göran; Marcos-Alcalde, Íñigo; Wilbe, Maria et al.

Part of European Journal of Medical Genetics, 2019.

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

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 et al.

Part of Neuropsychiatric Disease and Treatment, p. 2049-2056, 2019.

DOI for An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study Download full text (pdf) of An intervention targeting social, communication and daily activity skills in children and adolescents with Down syndrome and autism: a pilot study

Autism needs to be considered in children with Down syndrome

Wester Oxelgren, Ulrika; Åberg, Marie; Myrelid, Åsa; Annerén, Göran et al.

Part of Acta Paediatrica, p. 2019-2026, 2019.

DOI for Autism needs to be considered in children with Down syndrome

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

Frisk, Sofia; Taylan, Fulya; Blaszczyk, Izabela; Nennesmo, Inger et al.

Part of Clinical Genetics, p. 118-125, 2019.

DOI for Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth Download full text (pdf) of Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

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

Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa et al.

Part of Clinical Genetics, p. 607-614, 2019.

DOI for Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses

More severe intellectual disability found in teenagers compared to younger children with Down syndrome.

Wester Oxelgren, Ulrika; Myrelid, Åsa; Annerén, Göran; Westerlund, Joakim et al.

Part of Acta Paediatrica, p. 961-966, 2019.

DOI for More severe intellectual disability found in teenagers compared to younger children with Down syndrome.

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

Gudmundsson, Sanna; Wilbe, Maria; Gorniok, Beata Filipek; Molin, Anna-Maja et al.

Part of Scientific Reports, 2019.

DOI for TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish Download full text (pdf) of TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

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 et al.

Part of Molecular Neurobiology, p. 7113-7127, 2019.

DOI for Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions Download full text (pdf) of Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

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

Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

Part of Prenatal Diagnosis, p. 1146-1154, 2017.

DOI for A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders Download full text (pdf) of A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

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

Wester Oxelgren, Ulrika; Myrelid, Åsa; Annerén, Göran; Ekstam, Bodil et al.

Part of Developmental Medicine & Child Neurology, p. 276-283, 2017.

DOI for Prevalence of autism and attention-deficit-hyperactivity disorder in Down syndrome: a population-based study

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

Linhares, Natalia Duarte; Menezes Freire, Maira Cristina; do Carmo Lisboa Cardenas, Raony Guimaraes Correa; Pena, Heloisa Barbosa et al.

Part of Genetics and Molecular Biology, p. 349-357, 2016.

DOI for 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency Download full text (pdf) of 1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

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

Ternby, Ellen; Axelsson, Ove; Annerén, Göran; Lindgren, Peter et al.

Part of Journal of community genetics, p. 237-242, 2016.

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

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

Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H. et al.

Part of Molecular Psychiatry, p. 133-148, 2016.

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

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

Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat et al.

Part of American Journal of Medical Genetics. Part A, p. 461-475, 2015.

DOI for 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

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

Ternby, Ellen; Ingvoldstad, Charlotta; Annerén, Göran; Lindgren, Peter et al.

Part of Acta Obstetricia et Gynecologica Scandinavica, p. 329-32, 2015.

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

Midwives and information on prenatal testing with focus on Down syndrome

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

Part of Prenatal Diagnosis, p. 1202-1207, 2015.

DOI for Midwives and information on prenatal testing with focus on Down syndrome

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

Wilbe, Maria; Ekvall, Sara; Eurenius, Karin; Ericson, Katharina et al.

Part of Journal of Medical Genetics, p. 195-202, 2015.

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

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

Ekvall, Sara; Wilbe, Maria; Dahlgren, Jovanna; Legius, Eric et al.

Part of BMC Medical Genetics, 2015.

DOI for Mutation in NRAS in familial Noonan syndrome: case report and review of the literature

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 et al.

Part of Cellular Reprogramming, p. 327-337, 2015.

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

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

Part of European Journal of Medical Genetics, p. 259-263, 2014.

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

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

Skogberg, Gabriel; Lundberg, Vanja; Lindgren, Susanne; Gudmundsdottir, Judith et al.

Part of Journal of Immunology, p. 2187-2195, 2014.

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

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

Winberg, Johanna; Gustavsson, Peter; Papadogiannakis, Nikos; Sahlin, Ellika et al.

Part of PLOS ONE, p. e85313-, 2014.

DOI for Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association Download full text (pdf) of Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

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

Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno et al.

Part of American Journal of Medical Genetics. Part A, p. 579-587, 2014.

DOI for Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome

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

Boudry-Labis, Elise; Demeer, Benedicte; Le Caignec, Cedric; Isidor, Bertrand et al.

Part of European Journal of Medical Genetics, p. 163-170, 2013.

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

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

Englund, Annika; Jonsson, Björn; Zander, Cecilia Soussi; Gustafsson, Jan et al.

Part of American Journal of Medical Genetics. Part A, p. 642-649, 2013.

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

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

Wang, Peter; Carrion, Prescilla; Qiao, Ying; Tyson, Christine et al.

Part of European Journal of Medical Genetics, p. 420-425, 2013.

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

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

Molin, Anna-Maja; Andrieux, J.; Koolen, D. A.; Malan, V. et al.

Part of Journal of Medical Genetics, p. 104-109, 2012.

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

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

Becker, Kerstin; Di Donato, Nataliya; Holder-Espinasse, Muriel; Andrieux, Joris et al.

Part of European Journal of Medical Genetics, p. 490-497, 2012.

DOI for 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

Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?

Allanson, Judith E.; Annerén, Göran; Aoki, Yoki; Armour, Christine M. et al.

Part of American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, p. 129-135, 2011.

DOI for Cardio-Facio-Cutaneous Syndrome: Does Genotype Predict Phenotype?

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Palomares, Maria; Delicado, Alicia; Mansilla, Elena; Luisa de Torres, Maria et al.

Part of American Journal of Human Genetics, p. 295-301, 2011.

DOI for Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype

Ekvall, Sara; Hagenäs, Lars; Allanson, Judith; Annerén, Göran et al.

Part of American Journal of Medical Genetics Part A, p. 1217-1224, 2011.

DOI for Co-Occurring SHOC2 and PTPN11 Mutations in a Patient With Severe/Complex Noonan Syndrome-Like Phenotype

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

Wentzel, Christian; Rajcan-Separovic, Evica; Ruivenkamp, Claudia A. L.; Chantot-Bastaraud, Sandra et al.

Part of European Journal of Human Genetics, p. 959-964, 2011.

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

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

Lynch, Sally Ann; Foulds, Nicola; Thuresson, Ann-Charlotte; Collins, Amanda L. et al.

Part of European Journal of Human Genetics, p. 534-539, 2011.

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

Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

Ljunger, Elisabeth; Stavreus-Evers, Anneli; Cnattingius, Sven; Ekbom, Anders et al.

Part of Fertility and Sterility, p. 221-224, 2011.

DOI for Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

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

Zambrano, Regina M.; Wohler, Elizabeth; Annerén, Göran; Thuresson, Ann-Charlotte et al.

Part of European Journal of Medical Genetics, p. 189-193, 2011.

DOI for 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

Bättre stöd åt nyblivna föräldrar till barn med livslångt funktionshinder: Förslag till nya riktlinjer

Hedov, Gerth; Annerén, Göran

Part of Läkartidningen, p. 1477-1479, 2010.

How Valid Are the Rates of Down Syndrome Internationally?: Findings from the International Clearinghouse for Birth Defects Surveillance and Research

Leoncini, Emanuele; Botto, Lorenzo D.; Cocchi, Guido; Annerén, Göran et al.

Part of American Journal of Medical Genetics, Part A, p. 1670-1680, 2010.

DOI for How Valid Are the Rates of Down Syndrome Internationally?: Findings from the International Clearinghouse for Birth Defects Surveillance and Research

International Trends of Down Syndrome 1993-2004: Births in Relation to Maternal Age and Terminations of Pregnancies

Cocchi, Guido; Gualdi, Silvia; Bower, Caroline; Halliday, Jane et al.

Part of Birth defects research. Clinical and molecular teratology, p. 474-479, 2010.

DOI for International Trends of Down Syndrome 1993-2004: Births in Relation to Maternal Age and Terminations of Pregnancies

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

Wentzel, Christian; Lynch, S. A.; Stattin, E.-L.; Sharkey, F. H. et al.

Part of Molecular Syndromology, p. 75-81, 2010.

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

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

Nyström, Anna-Maja; Ekvall, Sara; Thuresson, Ann-Charlotte; Kamali-Moghaddam, Masood et al.

Part of European Journal of Medical Genetics, p. 117-121, 2010.

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

Late effects of early growth hormone treatment in Down syndrome

Myrelid, Åsa; Bergman, Sara; Elfvik Strömberg, Maria; Jonsson, Björn et al.

Part of Acta Paediatrica, p. 763-769, 2010.

DOI for Late effects of early growth hormone treatment in Down syndrome

Normal growth hormone secretion in overweight young adults with Down syndrome

Myrelid, Åsa; Frisk, Per; Stridsberg, Mats; Annerén, Göran et al.

Part of Growth Hormone & IGF Research, p. 174-178, 2010.

DOI for Normal growth hormone secretion in overweight young adults with Down syndrome

The 12q14 microdeletion syndrome, 6 new cases confirming the role of HMGA2 in growth

Sharkey, Freddie H.; Foulds, N.; Thuresson, Ann-Charlotte; Collins, A. L. et al.

Part of Journal of Medical Genetics, p. S90-S90, 2010.

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

Nyström, Anna-Maja; Ekvall, Sara; Strömberg, Bo; Holmström, Gerd et al.

Part of Acta Paediatrica, p. 693-698, 2009.

DOI for A severe form of Noonan syndrome and autosomal dominant café-au-lait spots: evidence for different genetic origins

Increased neonatal thyrotropin in Down syndrome

Myrelid, Åsa; Jonsson, Björn; Guthenberg, Claes; Döbeln, von, Ulrika et al.

Part of Acta Paediatrica, p. 1010-1013, 2009.

DOI for Increased neonatal thyrotropin in Down syndrome

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

Nyström, Anna-Maja; Ekvall, Sara; Allanson, Judith; Edeby, Christina et al.

Part of Clinical Genetics, p. 524-534, 2009.

DOI for Noonan syndrome and Neurofibromatosis type I in a family with a novel mutation in NF1

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

Amini, Hashem; Axelsson, Ove; Ollars, Birgitta; Annerén, Göran

Part of Acta Obstetricia et Gynecologica Scandinavica, p. 654-659, 2009.

DOI for The Swedish Birth Defects Registry: ascertainment and incidence of spina bifida and cleft lip/palate

Clinical variability of the 22q11.2 duplication syndrome

Wentzel, Christian; Fernström, Maria; Öhrner, Ylva; Annerén, Göran et al.

Part of European Journal of Medical Genetics, p. 501-510, 2008.

DOI for Clinical variability of the 22q11.2 duplication syndrome Download full text (pdf) of Clinical variability of the 22q11.2 duplication syndrome

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

Leoncini, Emanuele; Baranello, Giovanni; Orioli, Iêda M; Annerén, Göran et al.

Part of Birth defects research. Clinical and molecular teratology, p. 585-591, 2008.

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

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

Nyström, Anna-Maja; Ekvall, Sara; Berglund, Erna; Björkqvist, Maria et al.

Part of Journal of Medical Genetics, p. 500-506, 2008.

DOI for Noonan and cardio-facio-cutanenous syndromes: two clinically and genetically overlapping disorders

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

Gustavsson, Peter; Schoumans, Jacqueline; Staaf, Johan; Borg, Åke et al.

Part of European Journal of Medical Genetics, p. 237-241, 2007.

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

Gastroschisis and associated defects: an international study

Mastroiacovo, Pierpaolo; Lisi, Alessandra; Castilla, Eduardo E.; Martínez-Frías, María-Luisa et al.

Part of American Journal of Medical Genetics, Part A, p. 660-671, 2007.

DOI for Gastroschisis and associated defects: an international study

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

Englund, Hillevi; Annerén, Göran; Gustafsson, Jan; Wester, Ulrika et al.

Part of Dementia and Geriatric Cognitive Disorders, p. 369-374, 2007.

DOI for Increase in beta-Amyloid Levels in Cerebrospinal Fluid of Children with Down Syndrome

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

Thuresson, Ann-Charlotte; Bondeson, Marie-Louise; Edeby, Christina; Ellis, P. et al.

Part of Cytogenetic and Genome Research, p. 1-7, 2007.

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

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

Söderbergh, Annika; Gustafsson, Jan; Ekwall, Olov; Hallgren, Åsa et al.

Part of Acta Paediatrica, p. 1657-1660, 2006.

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

Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation

Wester, Ulrika; Bondeson, Marie-Louise; Edeby, Christina; Annerén, Göran

Part of American Journal of Medical Genetics. Part A, p. 1164-1171, 2006.

DOI for Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation

Environmental tobacco smoke and risk of spontaneous abortion

George, Lena; Granath, Fredrik; Johansson, Anna L. V.; Annerén, Göran et al.

Part of Epidemiology, p. 500-505, 2006.

DOI for Environmental tobacco smoke and risk of spontaneous abortion

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

Mansouri, Mahmoud Reza; Carlsson, Birgit; Davey, Edward; Nordenskjöld, Agneta et al.

Part of Human Genetics, p. 162-168, 2006.

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

Antitissue transglutaminase and antithyroid autoantibodies in children with Down syndrome and celiac disease.

Hansson, Tony; Dahlbom, Ingrid; Rogberg, Siv; Nyberg, Britt-Inger et al.

Part of J Pediatr Gastroenterol Nutr, p. 170-4; discussion 125, 2005.

Chromosomal anomalies in first-trimester miscarriages.

Ljunger, Elisabeth; Cnattingius, Sven; Lundin, Catarina; Anneren, Göran

Part of Acta Obstet Gynecol Scand, p. 1103-7, 2005.

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

Le Blanc, Katarina; Götherström, Cecilia; Ringdeén, Olle; Hassan, Moustapha et al.

Part of Transplantation, p. 1607-14, 2005.

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

Schoumans, Jacqueline; Nordgren, Ann; Ruivenkamp, Claudia; Bröndum-Nielsen, Karen et al.

Part of Eur J Hum Genet, p. 260-3, 2005.

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

Klar, Joakim; Åsling, Bengt; Carlsson, Birgit; Ulvsbäck, Magnus et al.

Part of Eur J Hum Genet, 2005.

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

Nyström, A-M; Bondeson, M-L; Skanke, N; Mårtensson, J et al.

Part of J Clin Endocrinol Metab, p. 227-31, 2004.

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

Dianzani, Irma; Garelli, E.; Gustavsson, P.; Carando, A. et al.

Part of Journal of Medical Genetics, p. e133-, 2003.

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

Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy

Wester, Ulrika; Brandberg, Göran; Larsson, M; Lönnerholm, Torsten et al.

Part of Prenatal Diagnosis, p. 663-668, 2002.

DOI for Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy

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

Tentler, Dmitry; Brandberg, Göran; Betancur, Catalina; Gillberg, Christopher et al.

Part of American Journal of Medical Genetics, p. 729-36, 2001.

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

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

Tentler, D.; Gustavsson, P.; Leisti, J.; Schueler, M. et al.

Part of European Journal of Human Genetics, p. 541-8, 1999.

Downs syndrom: ny kunskap ställer höga krav på medicinsk vård och habilitering

Annerén, Göran; Hedov, Gerth; Wester, Ulrika

Part of Socialmedicinsk Tidskrift, p. 71-79, 1999.

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

Arnell, Henrik; Nemeth, Antal; Annerén, Göran; Dahl, Niklas

Part of Human Genetics, p. 378-381, 1997.

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

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

Arnell, Henrik; Hjalmas, Kelm; Jagervall, Martin; Läckgren, Göran et al.

Part of Journal of Medical Genetics, p. 360-5, 1997.

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

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

Edman Ahlbom, Bodil; Goetz, P; Korenberg, JR; Pettersson, Ulf et al.

Part of American Journal of Medical Genetics. Part A, p. 566-572, 1996.

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

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

Annerén, Göran; Dahl, Niklas; Uddenfeldt, Ulrika; Janols, Lars-Olof

Part of American Journal of Medical Genetics, p. 330-1, 1995.

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