Lista de obras - Agneta Nordenskjöld - Dominio Público Uruguay

17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings

artículo científico publicado en 2011

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

artículo científico publicado en 2010

A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease

article

A case with bladder exstrophy and unbalanced X chromosome rearrangement

artículo científico publicado en 2013

A large nationwide population-based case-control study of the association between intussusception and later celiac disease

artículo científico publicado en 2013

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

artículo científico publicado en 2012

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

artículo científico publicado en 2003

A rare microduplication in a familial case of annular pancreas and duodenal stenosis

artículo científico publicado en 2012

A study on proliferation and gene expression in normal human urothelial cells in culture

artículo científico publicado en 2014

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

artículo científico publicado en 2008

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis

article

Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias

article

Adult outcomes after surgery for Hirschsprung's disease: Evaluation of bowel function and quality of life

artículo científico publicado en 2015

Advantages of Reduced Prophylaxis after Tubularized Incised Plate Repair of Hypospadias.

artículo científico publicado en 2016

Age at surgery for undescended testis and risk of testicular cancer.

artículo científico publicado en 2007

Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis

artículo científico publicado en 2015

An androgen receptor gene mutation (A645D) in a boy with a normal phenotype

artículo científico publicado en 1998

An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity

artículo científico publicado en 2002

Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study

artículo científico publicado en 2016

Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population

artículo científico publicado en 2013

Autologous in vitro cultured urothelium in hypospadias repair☆

artículo científico publicado en 2006

Boy or girl--don't ever guess! Diagnosis and treatment of sex differentiation disorders

artículo científico publicado en 2008

Boy or girl? Molecular mechanisms in sex differentiation

artículo científico publicado en 2000

Boys with Undescended Testes: Endocrine, Volumetric and Morphometric Studies on Testicular Function before and after Orchidopexy at Nine Months or Three Years of Age

artículo científico publicado en 2012

CXorf6 is a causative gene for hypospadias

artículo científico publicado en 2006

Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study

artículo científico publicado en 2015

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

article

Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

artículo científico publicado en 2018

Common variants in DGKK are strongly associated with risk of hypospadias

scientific journal article

Complex segregation analysis of hypospadias.

artículo científico publicado en 2002

Congenital Adrenal Hyperplasia, Polycystic Ovary Syndrome and criminal behavior: A Swedish population based study

artículo científico publicado en 2015

Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study

artículo científico publicado en 2015

Congenital intestinal malrotation in adolescent and adult patients: a 12-year clinical and radiological survey

artículo científico

Constitutional and somatic mutations in theWTI gene in wilms' tumor patients

article

Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: A multicenter study of 116 children with Hirschsprung disease

artículo científico publicado en 2017

Current models of care for disorders of sex development - results from an International survey of specialist centres

artículo científico publicado en 2016

Derivation of Human Skin Fibroblast Lines for Feeder Cells of Human Embryonic Stem Cells

artículo científico publicado en 2016

Derivation of human skin fibroblast lines for feeder cells of human embryonic stem cells

artículo científico publicado en 2008

Development and descent of the testis in relation to cryptorchidism

artículo científico publicado en 2007

Effects on Voice Fundamental Frequency and Satisfaction with Voice in Trans Men during Testosterone Treatment-A Longitudinal Study

artículo científico publicado en 2015

Engineering of multilayered urinary tissue in vitro

artículo científico publicado en 2004

Erratum: Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

scholarly article published in European Journal of Human Genetics

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

artículo científico publicado en 2018

Expansion of Submucosal Bladder Wall Tissue In Vitro and In Vivo

artículo científico publicado en 2016

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

article

Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2008

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

artículo científico publicado en 2014

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency

artículo científico publicado en 2007

Frequent Finding of the Androgen Receptor A645D Variant in Normal Population

article

GENOME-WIDE LINKAGE ANALYSIS FOR HYPOSPADIAS SUSCEPTIBILITY GENES

article

Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

artículo científico publicado en 2009

Gene expression profiling of favorable histology Wilms tumors and its correlation with clinical features.

artículo científico publicado en 2002

Genetic and clinical studies on hypospadias

artículo científico publicado en 2004

Genetic and environmental origins of hypospadias.

artículo científico

Genetic influence on dystocia

Genome-wide association analyses identify variants in developmental genes associated with hypospadias

artículo científico publicado en 2014

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

artículo científico publicado en 2014

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

artículo científico publicado en 2018

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

artículo científico publicado en 2011

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

artículo científico publicado en 2019

Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene

artículo científico publicado en 1999

Growth of spontaneously descended and surgically treated testes during early childhood.

artículo científico publicado en 2013

Heredity of hypospadias and the significance of low birth weight

artículo científico publicado en 2002

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations

artículo científico publicado en 1998

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

artículo científico publicado en 2011

Hypospadias and increased risk for neurodevelopmental disorders

artículo científico publicado en 2014

Hypospadias as a novel feature in spinal bulbar muscle atrophy

artículo científico publicado en 2016

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

artículo científico publicado en 2011

Hypospadias is related to birth weight in discordant monozygotic twins.

artículo científico publicado en 1998

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Inactivation of H19, an imprinted and putative tumor repressor gene, is a preneoplastic event during Wilms' tumorigenesis

article

Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

artículo científico publicado en 2015

Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

artículo científico publicado en 2009

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2014

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2013

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis

artículo científico publicado en 2017

Involving Individuals with Disorders of Sex Development and Their Parents in Exploring New Models of Shared Learning: Proceedings from a DSDnet COST Action Workshop

artículo científico publicado en 2018

Isolation and in vitro cultivation of human urothelial cells from bladder washings of adult patients and children

artículo científico publicado en 2003

Laparoscopic-assisted pull-through for Hirschsprung's disease, a prospective repeated evaluation of functional outcome

artículo científico

Letter to the editor: Sex and the eye test

scientific article published on 31 July 2018

Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene

artículo científico publicado en 2004

Long-Term Followup of Men Born with Hypospadias: Urological and Cosmetic Results

artículo científico publicado en 2014

Long-term culture of human urothelial cells--a qualitative analysis

artículo científico publicado en 2005

Low frequency of RET mutations in Hirschsprung disease in Sweden ⬇️

artículo científico publicado el 1 de julio de 1998

Magnetic Resonance Imaging of the Vocal Folds in Women With Congenital Adrenal Hyperplasia and Virilized Voices.

artículo científico publicado en 2016

Maternal Risk Factors and Perinatal Characteristics for Hirschsprung Disease

artículo científico publicado en 2016

Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study.

artículo científico publicado en 2016

Maternal and gestational risk factors for hypospadias

artículo científico publicado en 2008

Maternal and pregnancy characteristics and risk of infantile hypertrophic pyloric stenosis

artículo científico publicado en 2014

Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2006

Molecular and clinical delineation of the 17q22 microdeletion phenotype

artículo científico publicado en 2013

Molecular characterization of 5 alpha-reductase type 2 deficiency and fertility in a Swedish family

artículo científico publicado en 1998

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

artículo científico publicado en 2006

Mutation analysis of the BRG1 gene in prostate cancer clinical samples.

artículo científico publicado en 2003

Mutation analysis of the motor neuron and pancreas homeobox 1 (MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome

artículo científico publicado en 2011

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association

artículo científico publicado en 2014

Mutational study of the MAMLD1-gene in hypospadias

article

Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux

artículo científico publicado en 2009

Mutations in the endothelin-receptor B gene in Hirschsprung disease in Sweden

article

Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families.

artículo científico publicado en 1998

No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis

article

No difference in cognitive performance or gender role behavior between men with and without hypospadias

scientific article published on 20 February 2019

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

scientific article published on 31 January 2015

No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia

article

No mutations found in candidate genes for dystocia

article

Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

scientific article published on 18 July 2018

Nordic consensus on treatment of undescended testes.

artículo científico publicado en 2007

Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype

article

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome

artículo científico publicado en 2005

Parallel incidences of sudden infant death syndrome and infantile hypertrophic pyloric stenosis: a common cause?

artículo científico publicado en 2001

Partial tetrasomy 14 associated with multiple malformations

artículo científico publicado en 2013

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

artículo científico publicado en 2015

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

artículo científico publicado en 2014

Phenotypic variation in a family with mutations in two Hirschsprung-related genes (RET and endothelin receptor B).

artículo científico publicado en 1998

Plasma lipids, genetic variants near APOA1, and the risk of infantile hypertrophic pyloric stenosis

scientific journal article

Polymorphisms of estrogen receptor beta gene are associated with hypospadias.

artículo científico publicado en 2006

Population Based Nationwide Study of Hypospadias in Sweden, 1973 to 2009: Incidence and Risk Factors

scholarly article by Anna Skarin Nordenvall et al published March 2014 in Journal of Urology

Population-based study shows that Hirschsprung disease does not have a negative impact on education and income

artículo científico publicado en 2016

Prepubertal follow-up after hypospadias repair with autologous in vitro cultured urothelial cells

artículo científico publicado en 2012

Psychiatric symptoms in men with hypospadias - preliminary results of a cross-sectional cohort study

scientific article published on 18 December 2018

Psychosocial and Sexual Outcomes in Adolescents following Surgery for Proximal Hypospadias in Childhood

artículo científico publicado en 2018

Psychosocial outcome in adult men born with hypospadias.

artículo científico publicado en 2016

Psychosocial outcomes in adult men born with hypospadias: A register-based study

artículo científico publicado en 2017

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

artículo científico publicado en 2019

Rates of orchiopexies in Sweden: 1977-1991.

artículo científico publicado en 2008

Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

artículo científico publicado en 2017

Risk Factors for Hypospadias in the Estrogen Receptor 2 Gene

article

Risk of venous thromboembolism in children after general surgery

artículo científico publicado en 2015

Screening for mutations in candidate genes for hypospadias

article

Self- and proxy-reported outcomes after surgery in people with disorders/differences of sex development (DSD) in Europe (dsd-LIFE)

artículo científico publicado en 2020

Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception

artículo científico publicado en 2010

Sexuality and fertility in men with hypospadias; improved outcome

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Study on genetic stability in human urothelial cells in vitro.

artículo científico publicado en 2016

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden

artículo científico publicado en 2014

Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?

artículo científico publicado en 2016

The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians

artículo científico publicado en 2012

The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility

artículo científico publicado en 2005

The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given

artículo científico publicado en 2016

The insulin-3 gene: lack of a genetic basis for human cryptorchidism

artículo científico publicado en 2002

The p.G146A and p.P125P Polymorphisms in the Steroidogenic Factor-1 (SF-1) Gene Do Not Affect the Risk for Hypospadias in Caucasians

article

The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias

artículo científico publicado en 2005

Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus

artículo científico publicado en 1993

Tissue-engineered transplants for the treatment of severe hypospadias

artículo científico publicado en 2010

Transdifferentiation of autologous bone marrow cells on a collagen-poly(ε-caprolactone) scaffold for tissue engineering in complete lack of native urothelium.

artículo científico publicado en 2014

Transplantation of autologous minced bladder mucosa for a one-step reconstruction of a tissue engineered bladder conduit

artículo científico publicado en 2013

Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

artículo científico publicado en 2007

Understanding the needs of professionals who provide psychosocial care for children and adults with disorders of sex development

artículo científico publicado en 2017

Voice Characteristics Related to Increased Levels of Androgens in Women with Congenital Adrenal Hyperplasia (CAH)

Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2008

Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

artículo científico publicado en 2013

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

artículo científico publicado en 2015

WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin

artículo científico publicado en 1994

Lista de obras de Agneta Nordenskjöld

17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in Three Adult Iranian Siblings

22q11.2 microduplication in two patients with bladder exstrophy and hearing impairment

A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease

A case with bladder exstrophy and unbalanced X chromosome rearrangement

A large nationwide population-based case-control study of the association between intussusception and later celiac disease

A new susceptibility locus for hypospadias on chromosome 7q32.2-q36.1

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome.

A rare microduplication in a familial case of annular pancreas and duodenal stenosis

A study on proliferation and gene expression in normal human urothelial cells in culture

Absence of motilin gene mutations in infantile hypertrophic pyloric stenosis

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis

Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias

Adult outcomes after surgery for Hirschsprung's disease: Evaluation of bowel function and quality of life

Advantages of Reduced Prophylaxis after Tubularized Incised Plate Repair of Hypospadias.

Age at surgery for undescended testis and risk of testicular cancer.

Altered fecal short chain fatty acid composition in children with a history of Hirschsprung-associated enterocolitis

An androgen receptor gene mutation (A645D) in a boy with a normal phenotype

An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity

Are carriers of CYP21A2 mutations less vulnerable to psychological stress? A population-based national cohort study

Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a Caucasian population

Autologous in vitro cultured urothelium in hypospadias repair☆

Boy or girl--don't ever guess! Diagnosis and treatment of sex differentiation disorders

Boy or girl? Molecular mechanisms in sex differentiation

Boys with Undescended Testes: Endocrine, Volumetric and Morphometric Studies on Testicular Function before and after Orchidopexy at Nine Months or Three Years of Age

CXorf6 is a causative gene for hypospadias

Characterization of Bacterial and Fungal Microbiome in Children with Hirschsprung Disease with and without a History of Enterocolitis: A Multicenter Study

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

Common variants in DGKK are strongly associated with risk of hypospadias

Complex segregation analysis of hypospadias.

Congenital Adrenal Hyperplasia, Polycystic Ovary Syndrome and criminal behavior: A Swedish population based study

Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study

Congenital intestinal malrotation in adolescent and adult patients: a 12-year clinical and radiological survey

Constitutional and somatic mutations in theWTI gene in wilms' tumor patients

Critical evaluation of the Hirschsprung-associated enterocolitis (HAEC) score: A multicenter study of 116 children with Hirschsprung disease

Current models of care for disorders of sex development - results from an International survey of specialist centres

Derivation of Human Skin Fibroblast Lines for Feeder Cells of Human Embryonic Stem Cells

Derivation of human skin fibroblast lines for feeder cells of human embryonic stem cells

Development and descent of the testis in relation to cryptorchidism

Effects on Voice Fundamental Frequency and Satisfaction with Voice in Trans Men during Testosterone Treatment-A Longitudinal Study

Engineering of multilayered urinary tissue in vitro

Erratum: Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort

Expansion of Submucosal Bladder Wall Tissue In Vitro and In Vivo

FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias

Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency

Frequent Finding of the Androgen Receptor A645D Variant in Normal Population

GENOME-WIDE LINKAGE ANALYSIS FOR HYPOSPADIAS SUSCEPTIBILITY GENES

Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

Gene expression profiling of favorable histology Wilms tumors and its correlation with clinical features.

Genetic and clinical studies on hypospadias

Genetic and environmental origins of hypospadias.

Genetic influence on dystocia

Genome-wide association analyses identify variants in developmental genes associated with hypospadias

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci

Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis

Genomic structure, 5' flanking sequences, and precise localization in 1P31.1 of the human prostaglandin F receptor gene

Growth of spontaneously descended and surgically treated testes during early childhood.

Heredity of hypospadias and the significance of low birth weight

Homozygous mutation (A228T) in the 5alpha-reductase type 2 gene in a boy with 5alpha-reductase deficiency: genotype-phenotype correlations

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development.

Hypospadias and increased risk for neurodevelopmental disorders

Hypospadias as a novel feature in spinal bulbar muscle atrophy

Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome

Hypospadias is related to birth weight in discordant monozygotic twins.

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

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

Inactivation of H19, an imprinted and putative tumor repressor gene, is a preneoplastic event during Wilms' tumorigenesis

Increased Cardiovascular and Metabolic Morbidity in Patients With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study

Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Increased psychiatric morbidity in women with complete androgen insensitivity syndrome or complete gonadal dysgenesis