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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Clinical biochemistry, 2019-11, Vol.73, p.50-56

2019

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Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.457-461

2016

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In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

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Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

European journal of medical genetics, 2013-12, Vol.56 (12), p.661-668

2013

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Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Clinical endocrinology (Oxford), 2012-05, Vol.76 (5), p.766-768

2012

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Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Clinical genetics, 2012-08, Vol.82 (2), p.197-200

2012

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Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2402-2407

2004

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Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2005-04, Vol.90 (4), p.2148-2153

2005

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Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.786-792

2008

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Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1498-1502

2012

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Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

Hormone research in paediatrics, 2012-01, Vol.77 (2), p.100-107

2012

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Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development

Clinical endocrinology (Oxford), 2007-06, Vol.66 (6), p.822-826

2007

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AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report

The New England journal of medicine, 2009-07, Vol.361 (5), p.489

2009

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Mutation in AGC1 Deficiency Associated with Global Cerebral Hypomyelination

The New England journal of medicine, 2009, Vol.361 (5), p.489-495

2009

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Mechanisms in Disorders of Sex Development

Barbaro, Michela

2008

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.143-149

2007

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Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

JIMD Reports - Case and Research Reports, 2012/1, 2012-01, Vol.4, p.67-73

2012

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Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

JIMD reports, 2019, Vol.50 (1), p.1-8

2019

Volltextzugriff (PDF)

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Clinical endocrinology, 2012, Vol.76 (5), p.766-768

2012

Volltextzugriff (PDF)

DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis

HORMONE RESEARCH, 2008, Vol.70, p.29

2008

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La spugna è la mia anima: omaggio a Piero Ceccucci

Abbati, Orietta Gori, Barbara Graziani, Michela

2016

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Cortical atrophy in chronic subdural hematoma from ultra-structures to physical properties

Scientific reports, 2023-02, Vol.13 (1), p.3400-3400, Article 3400

2023

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A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease

Human molecular genetics, 2014-06, Vol.23 (11), p.2995-3007

2014

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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia

Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

In vitro functional studies of rare CYP 21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development

AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report

Mutation in AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Mechanisms in Disorders of Sex Development

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

DAX1 locus duplications as a cause of isolated partial or complete 46,XY gonadal dysgenesis

La spugna è la mia anima: omaggio a Piero Ceccucci

Non-Operative Management Versus Total Mesorectal Excision for Locally Advanced Rectal Cancer with Clinical Complete Response After Neoadjuvant Chemoradiotherapy: a GRADE Approach by the Rectal Cancer Guidelines Writing Group of the Italian Association of Medical Oncology (AIOM)

Cortical atrophy in chronic subdural hematoma from ultra-structures to physical properties

A potent and selective Sirtuin 1 inhibitor alleviates pathology in multiple animal and cell models of Huntington's disease

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