List of works - Anu Bashamboo

A 1.3 kb satellite DNA from Bubalus bubalis not conserved evolutionarily is transcribed.

scientific article

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

scientific article published on 21 July 2018

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

scientific article published on 21 December 2017

A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.

scientific article published on 25 July 2014

A missense mutation in NR5A1 causing female to male sex reversal: A case report

scientific article published on 09 April 2020

A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

scientific article published on 15 June 2017

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific journal article

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

scientific article published on 27 December 2016

An ancient protein-DNA interaction underlying metazoan sex determination

scientific article published on 25 May 2015

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

scientific article published on 10 April 2014

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

scientific article

Association of the MTHFR A1298C variant with unexplained severe male infertility

scientific article (publication date: 2012)

Clinical, biological and genetic analysis of anorchia in 26 boys

scientific article

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

scientific article published in 2010

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

scientific article

Consanguinity and disorders of sex development

scientific article

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome

scientific article published on 23 May 2019

DHX37 and 46,XY DSD: A New Ribosomopathy?

scientific article published in 2022

Detection of Salmonella typhi by polymerase chain reaction: implications in diagnosis of typhoid fever

scientific article published on December 2002

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

scientific article published on 9 October 2017

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

scientific article published on 27 November 2014

Familial early puberty: presentation and inheritance pattern in 139 families

scientific article

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

scientific article

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

scientific article published on 23 March 2015

Gonadal development

scientific article published on 11 September 2014

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

scientific article

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

scientific article

Human sex-determination and disorders of sex-development (DSD).

scientific article

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

scientific article

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

scientific article published on 24 March 2017

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

scientific article

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations ⬇️

scientific article published on June 27, 2012

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

scientific article published on 16 February 2018

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

scientific article

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

scientific article published on 3 December 2016

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome ⬇️

scientific article published on August 2, 2013

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome ⬇️

scientific article published on April 30, 2013

Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzyme

scientific article

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

scientific article

Mutations in NR5A1 associated with ovarian insufficiency

scientific article

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

scientific article published on 18 February 2014

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

scientific article published on 21 May 2009

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

scientific article published on 11 April 2017

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

scientific article published on 24 January 2018

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

scientific article published in 2022

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

scientific article

Organizational variation of DYZ1 repeat sequences on the human Y chromosome and its diagnostic potentials.

scientific article

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

scientific article published on 24 July 2019

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

scientific article published on 03 December 2020

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

scientific article published on 8 January 2012

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts ⬇️

scientific article published on February 1, 2011

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.

scientific article

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

scientific article published on 21 April 2015

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

scientific article published on 07 July 2020

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

scientific article published on 03 June 2020

The TALE homeodomain of PBX1 is involved in human primary testis-determination

scientific article published on 21 May 2019

Unilateral cryptorchidism in mice mutant for Ptgds

scientific article

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

scientific article published on 2 November 2017

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

scientific article published in December 2015

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

scientific article published on 7 May 2018

List of works by Anu Bashamboo

A 1.3 kb satellite DNA from Bubalus bubalis not conserved evolutionarily is transcribed.

A Homozygous Missense Mutation in FANCA Gene in a 46,XY Female with Gonadal Dysgenesis

A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the R-spondin1 Gene Associated with Familial 46,XX DSD.

A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.

A missense mutation in NR5A1 causing female to male sex reversal: A case report

A novel HSD17B3 gene mutation in a 46,XY female-phenotype newborn identified by whole-exome sequencing

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

An ancient protein-DNA interaction underlying metazoan sex determination

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development

Association of spermatogenic failure with the b2/b3 partial AZFc deletion

Association of the MTHFR A1298C variant with unexplained severe male infertility

Clinical, biological and genetic analysis of anorchia in 26 boys

Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls

Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys

Consanguinity and disorders of sex development

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro-oculo-facio-skeletal syndrome

DHX37 and 46,XY DSD: A New Ribosomopathy?

Detection of Salmonella typhi by polymerase chain reaction: implications in diagnosis of typhoid fever

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center

Familial early puberty: presentation and inheritance pattern in 139 families

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis

Gonadal development

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

Human sex-determination and disorders of sex-development (DSD).

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Lack of association between genetic polymorphisms in enzymes associated with folate metabolism and unexplained reduced sperm counts.

Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations ⬇️

Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development

Methylation changes in mature sperm deoxyribonucleic acid from oligozoospermic men: assessment of genetic variants and assisted reproductive technology outcome ⬇️

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome ⬇️

Molecular basis of the attenuated phenotype of human APOBEC3B DNA mutator enzyme

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

Mutations in NR5A1 associated with ovarian insufficiency

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

Mutations in the TSPYL1 gene associated with 46,XY disorder of sex development and male infertility

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea

Organizational variation of DYZ1 repeat sequences on the human Y chromosome and its diagnostic potentials.

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Polymorphisms in DLGH1 and LAMC1 in Mayer-Rokitansky-Kuster-Hauser syndrome

Polymorphisms in MTHFR and MTRR genes associated with blood plasma homocysteine concentration and sperm counts ⬇️

Prevalence of the Aurora kinase C c.144delC mutation in infertile Moroccan men.

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD)

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

The TALE homeodomain of PBX1 is involved in human primary testis-determination

Unilateral cryptorchidism in mice mutant for Ptgds

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling