A. Bashamboo

发表

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

N. Sebire, J. Seeler, H. Rouba, 2010, American journal of human genetics.

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

A. Bashamboo, Ashwani Kumar, V. Arora, 2002, Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases.

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

S. Abdelhak, K. McElreavey, M. Mokni, 2017, Annals of dermatology.

Identification of a novel mutation of LAMB 3 gene in a lybian patient with hereditary epidermolysis bullosa by whole exome sequencing

K. McElreavey, M. Mokni, O. Messaoud, 2017 .

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

H. Rouba, A. Barakat, K. McElreavey, 2014, Fertility and sterility.

Steroidogenic Factor 1 (SF-1; NR5A1)

K. McElreavey, A. Bashamboo, 2019, Encyclopedia of Endocrine Diseases.

Mutant NR5A1/SF‐1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer

A. Sinclair, P. Koopman, K. McElreavey, 2018, Human mutation.

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

K. McElreavey, A. Bashamboo, 2016, Sexual Development.

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

K. McElreavey, A. Bashamboo, 2015, Seminars in cell & developmental biology.

Gene Mutations Associated with Anomalies of Human Gonad Formation

K. McElreavey, A. Bashamboo, 2012, Sexual Development.

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

K. McElreavey, D. Lourenço, A. Bashamboo, 2011, PloS one.

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2017, The Journal of clinical endocrinology and metabolism.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

S. Wells, H. Clevers, R. Burdine, 2018, Proceedings of the National Academy of Sciences.

NR 5 A 1 / SF1 and development and function of the ovary NR 5 A 1 / SF1 , développement et fonction ovarienne

K. McElreavey, A. Bashamboo, 2010 .

NR5A1/SF-1 and development and function of the ovary.

K. McElreavey, A. Bashamboo, 2010, Annales d'endocrinologie.

The survival of differentiating embryonic stem cells is dependent on the SCF-KIT pathway

K. Samuel, A. Whetton, L. Forrester, 2006, Journal of Cell Science.

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

S. Abdelhak, L. Romdhane, K. McElreavey, 2019, Molecular genetics & genomic medicine.

Monogenic Forms of DSD: An Update

K. McElreavey, A. Bashamboo, 2021, Hormone Research in Paediatrics.

Random amplification of polymorphic DNA with conserved sequences reveals genome-specific monomorphic amplicons: Implications in clad identification

A. Bashamboo, Sher Ali, A. Azfer, 1999, Journal of Biosciences.

DHX37 and 46,XY DSD: A New Ribosomopathy?

K. McElreavey, A. Bashamboo, E. Pailhoux, 2022, Sexual Development.

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

K. McElreavey, D. Satta, A. Bashamboo, 2022, Frontiers in Genetics.

The role of next generation sequencing in understanding male and female sexual development: clinical implications

K. McElreavey, A. Bashamboo, 2016, Expert review of endocrinology & metabolism.

A bubaline-derived satellite DNA probe uncovers generic affinities of gaur with other bovids

P. Ray, A. Bashamboo, P. Malik, 1999, Journal of Biosciences.

Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies.

A. Prasad, M. M. Rahman, A. Bashamboo, 2005, Molecular human reproduction.

Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development

A. Torky, K. McElreavey, A. Bashamboo, 2021, American journal of medical genetics. Part A.

Identification of a missense variant in CLDN2 in obstructive azoospermia

M. Sadeghi, M. H. Karimi-Jafari, K. McElreavey, 2019, Journal of Human Genetics.

Granulosa cells provide elimination of apoptotic oocytes through unconventional autophagy-assisted phagocytosis.

B. Jégou, C. Ravel, A. Bashamboo, 2020, Human reproduction.

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development

K. McElreavey, A. Bashamboo, C. Eozenou, 2017, Clinical genetics.

Mutations in NR5A1 associated with ovarian insufficiency.

K. McElreavey, G. Guerra‐Júnior, J. Achermann, 2009, The New England journal of medicine.

Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys

K. McElreavey, A. Bashamboo, S. Brailly‐Tabard, 2013, PloS one.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2016, BMC Pediatrics.

Molecular characterization of a Y-derived marker chromosome and identification of indels in the DYS1 region in a patient with stigmata of Turner syndrome

A. Bashamboo, V. Sarhadi, Sher Ali, 2003 .

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

S. Abdelhak, K. McElreavey, O. Messaoud, 2021, Frontiers in Genetics.

Consanguinity and Disorders of Sex Development

K. McElreavey, A. Bashamboo, 2014, Human Heredity.

Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2021, Frontiers in Pediatrics.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2015, European Journal of Pediatrics.

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2020, PloS one.

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

K. McElreavey, C. Ravel, I. Berthaut, 2013, Fertility and sterility.

Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion

Majida Charif, H. Rouba, A. Barakat, 2012, PloS one.

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

T. Pippucci, K. Voskarides, C. Deltas, 2018, European journal of medical genetics.

Effect of temozolomide on male gametes: an epigenetic risk to the offspring?

K. McElreavey, C. Ravel, I. Berthaut, 2013, Journal of Assisted Reproduction and Genetics.

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

M. Sibony, B. Gilbert-Dussardier, A. Kitzis, 2015, American journal of medical genetics. Part A.

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

F. Beuschlein, K. McElreavey, U. Lichtenauer, 2019, Human mutation.

In vitro cellular reprogramming to model gonad development and its disorders

R. Lovell-Badge, K. McElreavey, R. Mitter, 2021, bioRxiv.

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

K. McElreavey, A. Bashamboo, N. Sirisena, 2014, Sexual Development.

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

R. Lovell-Badge, A. Rajkovic, K. McElreavey, 2020, Proceedings of the National Academy of Sciences.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2016, Sexual Development.

Understanding the genetic aetiology in patients with XY DSD.

K. McElreavey, A. Bashamboo, A. Lucas-Herald, 2013, British medical bulletin.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2015, Fertility and sterility.

Genetic disorders of sex differentiation.

K. McElreavey, A. Bashamboo, 2011, Advances in experimental medicine and biology.

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.

H. Rouba, K. McElreavey, A. Bashamboo, 2016, The Journal of clinical endocrinology and metabolism.

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

A. Sinclair, F. Vialard, C. Ravel, 2020, Molecular human reproduction.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

R. McGowan, K. McElreavey, A. Greenfield, 2018, European journal of endocrinology.

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.

A. Grüters, H. Biebermann, H. Krude, 2014, European journal of endocrinology.

Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys

K. McElreavey, A. Bashamboo, H. Lottmann, 2011, PloS one.

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

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular genetics.

Disorders of sex development: new genetic factors and impact of medical genomics

K. McElreavey, A. Bashamboo, 2012 .

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet".

Andy Greenfield, Olaf Hiort, Nils Krone, 2018, European journal of endocrinology.

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

E. Rajpert-De Meyts, K. McElreavey, J. Achermann, 2018, American journal of human genetics.

The evolving role of whole-exome sequencing in the management of disorders of sex development

K. McElreavey, C. Sultan, A. Bashamboo, 2021, Endocrine connections.

Clinical, Biological and Genetic Analysis of Prepubertal Isolated Ovarian Cyst in 11 Girls

K. McElreavey, P. Philibert, C. Sultan, 2010, PloS one.

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

A. Prasad, M. M. Rahman, A. Bashamboo, 2004, DNA and cell biology.

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

G. Conway, K. McElreavey, S. Nef, 2019, Genetics in Medicine.

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

J. Valla, J. Daurès, K. McElreavey, 2013, PloS one.

Familial early puberty: presentation and inheritance pattern in 139 families

K. McElreavey, A. Bashamboo, R. Brauner, 2016, BMC Endocrine Disorders.

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

K. McElreavey, P. Wieacker, J. Achermann, 2010, Sexual Development.

An ancient protein-DNA interaction underlying metazoan sex determination

Hideki Aihara, Surajit Banerjee, Ken McElreavey, 2015, Nature Structural &Molecular Biology.

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

K. McElreavey, A. Saâd, A. Bashamboo, 2016, Fertility and sterility.

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

H. Rouba, K. McElreavey, C. Ravel, 2009, Fertility and sterility.

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

K. McElreavey, D. Lourenço, A. Bashamboo, 2011, Proceedings of the National Academy of Sciences.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2016, Sexual Development.

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

M. Kinali, V. Salpietro, K. McElreavey, 2015, Journal Genetika.

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

P. Validire, A. Rajkovic, E. Rajpert-De Meyts, 2018, Human molecular genetics.

Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings

A. Bashamboo, J. Bignon-Topalovic, E. Globa, 2022, Frontiers in Endocrinology.

Genetics of 46,XY gonadal dysgenesis.

K. McElreavey, A. Bashamboo, M. Elzaiat, 2022, Best practice & research. Clinical endocrinology & metabolism.

Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

K. McElreavey, D. Satta, M. Totonchi, 2021, Sexual Development.

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

K. McElreavey, M. Totonchi, A. Bashamboo, 2020, Andrologia.

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis

L. Pasquier, K. McElreavey, C. Ravel, 2015, Journal of Assisted Reproduction and Genetics.

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

J. Rosenfeld, P. Donohoue, Mahim Jain, 2016, Human molecular genetics.

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

H. Charoute, A. Bakhchane, H. Rouba, 2017, Sexual Development.

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

K. McElreavey, A. Guffanti, D. Lourenço, 2014, Human molecular genetics.

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

M. Gribaa, K. McElreavey, A. Saâd, 2023, Reproductive Biology and Endocrinology.

Minisatellite associated sequence amplification (MASA) of the hypervariable repeat marker 33.15 reveals a male specific band in humans.

A. Bashamboo, S. Ali, S. Ali, 2001, Molecular and cellular probes.

A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis

K. McElreavey, A. Bashamboo, A. Kamel, 2022, Sexual Development.

Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility

Majida Charif, H. Benrahma, H. Rouba, 2012, PloS one.

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

T. Pippucci, S. Abdelhak, A. Barakat, 2017, Journal of dermatological science.

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

K. McElreavey, C. Ravel, J. Siffroi, 2011, Fertility and sterility.

Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts

K. McElreavey, Clémentine Chalmey, C. Ravel, 2009, PloS one.

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

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Characterization of a species-specific repetitive DNA from a highly endangered wild animal, Rhinoceros unicornis, and assessment of genetic polymorphism by microsatellite associated sequence amplification (MASA).

V. Mathur, P. Mathur, A. Bashamboo, 1999, Gene.

Unilateral Cryptorchidism in Mice Mutant for Ptgds

Y. Urade, P. Philibert, C. Sultan, 2013, Human mutation.

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

K. McElreavey, A. Bashamboo, J. Bignon-Topalovic, 2012, PloS one.

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

E. Darai, K. McElreavey, C. Ravel, 2012, Reproductive Biomedicine Online.

Development of genetic markers specific for highly endangered species Rhinoceros unicornis: strategies and implications in conservation

A. Bashamboo, Sher Ali, V. Kapur, 2002 .

Atypical Clinical Presentation of Persistent Müllerian Duct Syndrome in Siblings

K. McElreavey, A. Bashamboo, N. Zelinska, 2021, Sexual Development.

Genetic Testing of DSD Patients in Ukraine

K. McElreavey, A. Bashamboo, N. Zelinska, 2019 .

Regulatory region upstream of SOX9 and 46,XX

B. Gilbert-Dussardier, K. McElreavey, R. Bhouri, 2015 .

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

S. Wain-Hobson, J. Vartanian, A. Bashamboo, 2015, Nucleic acids research.

Identification of a missense variant in CLDN2 in obstructive azoospermia

M. Sadeghi, M. H. Karimi-Jafari, K. McElreavey, 2019, Journal of Human Genetics.

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

K. McElreavey, A. Bashamboo, 2016, Sexual Development.

Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study

A. Bashamboo, J. Bignon-Topalovic, Raja Brauner, 2023, PloS one.

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.

A. Grüters, H. Biebermann, H. Krude, 2014, European journal of endocrinology.

Evidence for NR2F2/COUP-TFII involvement in human testis development

A. Bashamboo, J. Bignon-Topalovic, M. Elzaiat, 2024, bioRxiv.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

R. McGowan, K. McElreavey, A. Greenfield, 2018, European journal of endocrinology.

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

M. Kinali, V. Salpietro, K. McElreavey, 2015, Journal of Genetics.

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

H. Rouba, A. Barakat, K. McElreavey, 2014, Fertility and sterility.

Table of Contents, Volume 185A, Number 6, June 2021

F. Alkuraya, K. Gripp, M. Harr, 2021 .

A 1.3 kb Satellite DNA from Bubalus bubalis not Conserved Evolutionarily is Transcribed

A. Bashamboo, Sher Ali, M. Chattopadhyay, 2004, Zeitschrift fur Naturforschung. C, Journal of biosciences.

Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development

K. McElreavey, A. Bashamboo, C. Eozenou, 2017, Clinical genetics.