Anu Bashamboo

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Artikel 62

Date

Judul

Pengarang

2022-08-30

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

Anu Bashamboo, Joelle Bignon-Topalovic, Kenneth McElreavey
2022-07-14

DHX37 and 46,XY DSD: A New Ribosomopathy?

Eric Pailhoux, Kenneth McElreavey, Anu Bashamboo
2020-04-09

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

Mehdi Totonchi, Kenneth McElreavey, Anu Bashamboo
2020-06-03

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

Maria Sol Touzon, Anne Jorgensen, Balazs Gellen, Mainpal Rana, Mehdi Totonchi, Roberta Migale, Roxana Marino, Natalia Perez Garrido, Esperanza Berensztein, John C Schimenti, Robin Lovell-Badge, Anu Bashamboo, Joelle Bignon-Topalovic, Kenneth McElreavey, Caroline Eozenou
2020-07-07

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

Elena J Tucker, Sylvie Jaillard, Anu Bashamboo, Joelle Bignon-Topalovic
2020-12-03

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity

Raja Brauner, Kenneth McElreavey, Anu Bashamboo, Joelle Bignon-Topalovic
2019-05-21

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

Tiphanie Merel, Kenneth McElreavey, Anu Bashamboo, Joelle Bignon-Topalovic, Raja Brauner, Caroline Eozenou, Henri Lottmann, Sandra Rojo
2019-07-24

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

Kenneth McElreavey, Anne Jorgensen, Denis Houzelstein, Federica Buonocore, Nick Warr, Matthieu Peycelon, John C. Achermann, Agnes Sallai, Jean-Claude Carel, Lionel Val Maldergem, Eugenia Globa, Ralf Jauch, Serge Nef, Andy Greenfield, Gerard S Conway, Anu Bashamboo, Joelle Bignon-Topalovic, Raja Brauner, Jean-Pierre Siffroi, Caroline Eozenou
2019-05-23

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

Kenneth McElreavey, Anu Bashamboo
2018-01-24

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

Kristian Almstrup, Yogesh Srivastava, Raffaella Rossetti, Liliana Dain, Stuart MacGowan, Ralf Jauch, John C. Achermann, Ewa Rajpert-De Meyts, Jean-Pierre Siffroi, Kenneth McElreavey, Anu Bashamboo, Joelle Bignon-Topalovic, Hassan Rouba, Raja Brauner, Sandra Chantot-Bastaraud, Caroline Eozenou, Sandra Rojo, Marie-Charlotte Dumargne
2018-02-16

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

Anne Jorgensen, Ewa Rajpert-De Meyts, John C. Achermann, Jean-Pierre Siffroi, Kenneth McElreavey, Anu Bashamboo, Joelle Bignon-Topalovic, Caroline Eozenou
2018-05-07

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.

Silvia Corrochano, Makoto Suzuki, Rebecca D. Burdine, Abigail Harris, Nick Warr, Daniel T Grimes, Bon-Kyoung Koo, Andy Greenfield, Hans Clevers, Anu Bashamboo, Joelle Bignon-Topalovic, Kenneth McElreavey, Raja Brauner, Caroline Eozenou
2018-07-21

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

Kenneth McElreavey, Anu Bashamboo
2017-04-11

Mutations in the human ROBO1 gene in pituitary stalk interruption syndrome

Kenneth McElreavey, Anu Bashamboo, Raja Brauner, Joelle Bignon-Topalovic
2017-03-24

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

Olfa Messaoud, Nadia Laroussi, Anu Bashamboo, Kenneth McElreavey, Mariem Chargui
2017-11-02

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

Mohamed Alibi, Mariem Ben Rekaya, Olfa Messaoud, Tommaso Pippucci, Anu Bashamboo, Abdelhamid Barakat, Kenneth McElreavey, Mariem Chargui
2017-12-21

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

Hicham Charoute, Anu Bashamboo, Kenneth McElreavey, Joelle Bignon-Topalovic, Abdelhamid Barakat, Hassan Rouba
2017-06-15

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

Rita Bertalan, Anu Bashamboo, Kenneth McElreavey
2017-10-09

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

Constantinos Deltas, Zied Landoulsi, Konstantinos Voskarides, Gregory Papagregoriou, Majdi Nagara, Rim Ben Abdallah, Mongia Hachicha, Sahar Elouej, Sonia Abdelhak, Anu Bashamboo, Kenneth McElreavey
2016-07-04

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

Carlos F. Lagos, Kenneth McElreavey, Anu Bashamboo, Joelle Bignon-Topalovic, Caroline Eozenou, Sandra Rojo, Marie-Charlotte Dumargne
2016-09-13

Familial early puberty: presentation and inheritance pattern in 139 families

Kenneth McElreavey, Anu Bashamboo, Raja Brauner
2016-11-29

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

Kenneth McElreavey, Anu Bashamboo, Raja Brauner, Joelle Bignon-Topalovic, Henri Lottmann
2016-12-03

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

Kenneth McElreavey, Anu Bashamboo
2016-05-12

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

Mona L. Essawi, Anu Bashamboo, Kenneth McElreavey
2016-03-22

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

Soumaya Mougou-Zerelli, Anu Bashamboo, Joelle Bignon-Topalovic, Kenneth McElreavey
2016-12-01

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

John C. Achermann, Anu Bashamboo, Kenneth McElreavey, Joelle Bignon-Topalovic, Caroline Eozenou, Sandra Rojo, Marie-Charlotte Dumargne
2016-04-08

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

Mona El Ruby, Anu Bashamboo, Joelle Bignon-Topalovic, Kenneth McElreavey
2016-12-01

Early recognition of gonadal dysgenesis in congenital nephrotic syndrome

Kenneth McElreavey, Anu Bashamboo
2015-05-25

An ancient protein-DNA interaction underlying metazoan sex determination

Surajit Banerjee, David Zarkower, Vivian J. Bardwell, Micah D Gearhart, Mark W. Murphy, Anu Bashamboo, Kenneth McElreavey, Sandra Rojo
2015-09-17

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

Jean-Pierre Vartanian, Anu Bashamboo, Marie-Charlotte Dumargne
2015-10-22

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

Kenneth McElreavey, Anu Bashamboo
2015-12-01

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

Dora Steel, Vincenzo Salpietro, Anu Bashamboo, Kenneth McElreavey

Human - wd:Q122853042

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