List of works - Laura Mazzanti

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

scientific article

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

scientific article

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

scientific article

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

scientific article

Prevalence and clinical picture of celiac disease in Turner syndrome.

scientific article

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

scientific article

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

scientific article

Noonan-like syndrome with loose anagen hair: a new syndrome?

scientific article published in April 2003

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

scientific article published on 20 August 2014

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

scientific article

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

article

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

scientific article published on 17 May 2013

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

scientific article

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

scientific article published on 7 September 2017

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

scientific article published on 19 February 2014

Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome. The Italian Study Group for Turner's Syndrome

scientific article published on 01 August 1995

Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development

scientific article published on 20 April 2015

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

scientific article published on 25 November 2010

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

scientific article published on 31 January 2014

Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies.

scientific article published on October 2011

Helicobacter pylori and type 1 diabetes mellitus in children

scientific article published on 01 March 1999

Effect of long-term GH administration on pituitary-thyroid function in idiopathic hypopituitarism

scientific article published on May 1, 1979

Effect of obesity on the hypothalamo-pituitary-gonadal function in childhood

scientific article published on May 1, 1977

Outcome of premature thelarche: relation to puberty and final height.

scientific article

The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

scientific article published on 21 October 2015

Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes.

scientific article

Hearing loss in Turner syndrome: results of a multicentric study.

scientific article published in September 2008

Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype

scientific article published on 01 October 1988

Heart disease in Turner's syndrome

scientific article published on 01 August 1988

The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome.

scientific article published on 19 November 2016

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

scientific article

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

scientific article

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

The Influence of Growth Hormone Treatment on Glucose Homeostasis in GrowthHormone-Deficient Children: A Six-Year Follow-Up Study

scientific article published on 6 September 2016

Developmental syndromes: growth hormone deficiency and treatment

scientific article published on 27 February 2009

Impaired GH Secretion in Patients with SHOX Deficiency and Efficacy of Recombinant Human GH Therapy

article

Turner syndrome, insulin sensitivity and growth hormone treatment

scientific article published in January 2005

Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study

scientific article published on 3 June 2016

Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: a cross-sectional and longitudinal study

scientific article published on 27 February 2015

Barber-Say syndrome: Report of a new case

scientific article published on June 30, 1998

Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: effect of GH therapy

scientific article published on 01 April 1977

The Influence of GH Treatment on Glucose Homeostasis in Girls With Turner Syndrome: A 7-Year Study

scientific article

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

scientific article published on 14 February 2012

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

scientific article published on 04 August 2007

The empowerment of translational research: lessons from laminopathies.

scientific article

Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect

scientific article published on 01 November 2004

Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes

scientific article published on 01 March 1994

GH, ACTH, TSH, LH, and FSH Reserve in Prepubertal Girls with Congenital Adrenal Hyperplasia

scientific article published on November 1, 1976

List of works by Laura Mazzanti

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Prevalence and clinical picture of celiac disease in Turner syndrome.

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Noonan-like syndrome with loose anagen hair: a new syndrome?

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome. The Italian Study Group for Turner's Syndrome

Quality of Life and Psychological Adjustment of Women Living with 46,XY Differences of Sex Development

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype

Epidemiology, Presentation and Long-Term Evolution of Graves' Disease in Children, Adolescents and Young Adults with Turner Syndrome

Laminopathies: many diseases, one gene. Report of the first Italian Meeting Course on Laminopathies.

Helicobacter pylori and type 1 diabetes mellitus in children

Effect of long-term GH administration on pituitary-thyroid function in idiopathic hypopituitarism

Effect of obesity on the hypothalamo-pituitary-gonadal function in childhood

Outcome of premature thelarche: relation to puberty and final height.

The association with Turner syndrome significantly affects the course of Hashimoto's thyroiditis in children, irrespective of karyotype

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks

Pelvic ultrasonography in patients with Turner syndrome: age-related findings in different karyotypes.

Hearing loss in Turner syndrome: results of a multicentric study.

Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype

Heart disease in Turner's syndrome

The Evolution of Thyroid Function after Presenting with Hashimoto Thyroiditis Is Different between Initially Euthyroid Girls with and Those without Turner Syndrome.

Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview.

Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption.

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

The Influence of Growth Hormone Treatment on Glucose Homeostasis in GrowthHormone-Deficient Children: A Six-Year Follow-Up Study

Developmental syndromes: growth hormone deficiency and treatment

Impaired GH Secretion in Patients with SHOX Deficiency and Efficacy of Recombinant Human GH Therapy

Turner syndrome, insulin sensitivity and growth hormone treatment

Disorders of glucose metabolism in Prader-Willi syndrome: Results of a multicenter Italian cohort study

Relationships between thyroid function and autoimmunity with metabolic derangement at the onset of type 1 diabetes: a cross-sectional and longitudinal study

Barber-Say syndrome: Report of a new case

Congenital hypopituitarism associated with neonatal hypoglycemia and microphallus: effect of GH therapy

The Influence of GH Treatment on Glucose Homeostasis in Girls With Turner Syndrome: A 7-Year Study

Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16

The empowerment of translational research: lessons from laminopathies.

Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect

Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes

GH, ACTH, TSH, LH, and FSH Reserve in Prepubertal Girls with Congenital Adrenal Hyperplasia