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WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report

Human reproduction (Oxford), 2007-01, Vol.22 (1), p.224-229

2007

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Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

Andrology (Oxford), 2016-03, Vol.4 (2), p.263-269

2016

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WNT4 and Sex Development

Sexual development, 2008-01, Vol.2 (4-5), p.210-218

2008

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P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

The journal of clinical endocrinology and metabolism, 2007-03, Vol.92 (3), p.1000-1007

2007

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Defects of steroidogenesis

Journal of endocrinological investigation, 2010-11, Vol.33 (10), p.756-766

2010

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Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche

Endocrinology (Philadelphia), 2000-04, Vol.141 (4), p.1446-1454

2000

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Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity

Diabetologia, 2005-05, Vol.48 (5), p.900-905

2005

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A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity

BJU international, 2003-12, Vol.92 (s3), p.e34-e35

2003

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Intra-adrenal regulation of androgen synthesis

European journal of clinical investigation, 2000-12, Vol.30 (s3), p.28-33

2000

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A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

The New England journal of medicine, 2004-08, Vol.351 (8), p.792-798

2004

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Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

Diabetologia, 2001-03, Vol.44 (3), p.286-289

2001

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Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development

Journal of endocrinological investigation, 2006-03, Vol.29 (3), p.208-213

2006

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A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency

The journal of clinical endocrinology and metabolism, 1997-11, Vol.82 (11), p.3807-3812

1997

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Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

American journal of human genetics, 2000-12, Vol.67 (6), p.1563-1568

2000

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Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905

Diabetologia, 2005-10, Vol.48 (10), p.2185-2186

2005

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CBX2-dependent transcriptional landscape: implications for human sex development and its defects

Yearbook of Paediatric Endocrinology, 2020-10

2020

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Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene

Diabetes (New York, N.Y.), 2002-07, Vol.51 (7), p.2301-2305

2002

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High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

The journal of clinical endocrinology and metabolism, 2002-09, Vol.87 (9), p.4106-4110

2002

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A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency1

The journal of clinical endocrinology and metabolism, 1997-11, Vol.82 (11), p.3807-3812

1997

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Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (ESR2)

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Subnormal cortisol response to adrenocorticotropin in isolated partial 17,20-lyase deficiency

Journal of Pediatric Endocrinology and Metabolism, 1997-07, Vol.10 (4), p.387

1997

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Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Yearbook of Paediatric Endocrinology, 2019-09

2019

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Molecular medicine of steroid hormone biosynthesis

Molecular aspects of medicine, 1998-06, Vol.19 (3), p.155-220

Biason-Lauber, Anna

1998

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BIOLOGICAL SESSION“THE IMPORTANCE OF G. GAMOW'S IDEAS FOR BIOLOGY OF THE 21st CENTURY” AT THE XXІI GAMOW INTERNATIONAL ASTRONOMICAL CONFERENCE-SCHOOL IN ODESA (25 AUGUST, 2022)

Odesa National University Herald. Biology, 2022-12, Vol.27 (2(51)), p.105-120

2022

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Genomic Structure, Chromosomal Localization, and Expression Pattern of the Human LIM-Homeobox3 (LHX 3) Gene

Biochemical and biophysical research communications, 2000-07, Vol.274 (1), p.49-56

2000

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WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report

Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia

WNT4 and Sex Development

P450c17 Deficiency: Clinical and Molecular Characterization of Six Patients

Defects of steroidogenesis

Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche

Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity

A novel mutation inducing partial androgen–insensitivity syndrome with phenotypic diversity

Intra-adrenal regulation of androgen synthesis

A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman

Epidemiology of Type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade

Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development

A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency

Apparently Normal Ovarian Differentiation in a Prepubertal Girl with Transcriptionally Inactive Steroidogenic Factor 1 (NR5A1/SF-1) and Adrenocortical Insufficiency

Reply to comment on: Biason-Lauber A, Boehm B, Lang-Muritano M et al. (2005) Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity. Diabetologia 48:900–905

CBX2-dependent transcriptional landscape: implications for human sex development and its defects

Loss of Kinase Activity in a Patient With Wolcott-Rallison Syndrome Caused By a Novel Mutation in the EIF2AK3 Gene

High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

A Single Amino Acid Substitution in the Putative Redox Partner-Binding Site of P450c17 as Cause of Isolated 17,20-Lyase Deficiency1

Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor β (ESR2)

Subnormal cortisol response to adrenocorticotropin in isolated partial 17,20-lyase deficiency

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development

Molecular medicine of steroid hormone biosynthesis

BIOLOGICAL SESSION“THE IMPORTANCE OF G. GAMOW'S IDEAS FOR BIOLOGY OF THE 21st CENTURY” AT THE XXІI GAMOW INTERNATIONAL ASTRONOMICAL CONFERENCE-SCHOOL IN ODESA (25 AUGUST, 2022)

Genomic Structure, Chromosomal Localization, and Expression Pattern of the Human LIM-Homeobox3 (LHX 3) Gene

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