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List of works by Laura Mazzanti

A case of pseudohypoparathyroidism with osteitis fibrosa cystica

scientific article published on November 3, 1977

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

article

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

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

scientific article published on 3 September 2014

Adult height in girls with Turner syndrome treated from before 6 years of age with a fixed per kilogram GH dose

scientific article published on 13 September 2013

Auxological and anthropometric evaluation in skeletal dysplasias.

scientific article published in June 2010

Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.

scientific article published on 27 April 2017

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

scientific article

Barber-Say syndrome: Report of a new case ⬇️

scientific article published on June 30, 1998

Behavior of plasma ACTH and somatotropin during hypoglycemia due to insulin in subjects affected by congenital adrenogenital syndrome

scientific article published on August 4, 1976

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

scientific article published on 7 September 2017

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

scientific article published on 01 April 1977

Correlations of phenotype and genotype in relation to morphologic remodelling of the aortic root in patients with Turner's syndrome

scientific article published on 6 April 2009

Developmental syndromes: growth hormone deficiency and treatment

scientific article published on 27 February 2009

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

scientific article published on 01 October 1988

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

scientific article published on 3 June 2016

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

scientific article published on 01 November 2004

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

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

Evaluation of function and structure of arterial wall in girls and young women with Turner syndrome

scientific article published on 02 April 2015

Evaluation of the incidence of infectious mononucleosis and the presence of Epstein-Barr virus antibodies in the cases of pediatric general medicine service

scientific article published on 01 October 1984

Final height in a patient with Laron syndrome after long-term therapy with rhlGF-I and short-term therapy with LHRH-analogue and oxandrolone during puberty.

scientific article published in March 2005

Fox-Fordyce disease: two cases in patients with Turner syndrome

scientific article published on 01 January 1999

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

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

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)

scientific article published on 03 October 2013

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

scientific article published on November 1, 1976

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

scientific article

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

scientific article

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

Growth and sport.

scientific article published on January 1989

Growth hormone treatment of adolescents with growth hormone deficiency (GHD) during the transition period: results of a survey among adult and paediatric endocrinologists from Italy. Endorsed by SIEDP/ISPED, AME, SIE, SIMA.

scientific article published on 2 November 2014

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

scientific article published in September 2008

Heart disease in Turner's syndrome

scientific article published on 01 August 1988

Helicobacter pylori and type 1 diabetes mellitus in children

scientific article published on 01 March 1999

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

scientific article

Hypophyso-gonadal function in the diabetic child ⬇️

scientific article published on March 1, 1978

Hypopyso-gonadal and hypophyso-adrenal function in boys with discordance between pubic hair and genital development

scientific article published on 01 October 1981

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

article

Improving the diagnosis of 11β-hydroxylase deficiency using home-made MLPA probes: identification of a novel chimeric CYP11B2/CYP11B1 gene in a Sicilian patient

article

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

scientific article published on October 2011

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

scientific article published on 17 May 2013

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

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

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

scientific article published on July 2016

New insights on diabetes in Turner syndrome: results from an observational study in adulthood

scientific article published on 07 June 2017

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

scientific article published in April 2003

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

scientific article published on 25 November 2010

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

scientific article

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

scientific article

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

scientific article

Pituitary-gonadal function in obese children

scientific article published on May 19, 1977

Prevalence and clinical picture of celiac disease in Turner syndrome.

scientific article

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

scientific article published on 20 April 2015

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

scientific article

Relationships between hypophyso-gonadal function and development of the gonads and pubic hair

scientific article published on February 1979

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

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

scientific article published on 31 July 2015

Response to treatment with HGH (human growth hormone) in 33 patients with idiopathic hypopituitarism

scientific article published on November 17, 1975

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

scientific article

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

scientific article

Sensitivity to exogenous insulin and release of endogenous insulin in hypopituitary non-hypoglycemic children treated with hGH

scientific article published on 01 January 1981

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

scientific article published on 01 March 1994

Stories of experiences of care for growth hormone deficiency: the CRESCERE project

scientific article published on 25 February 2016

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

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

scientific article

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

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

The empowerment of translational research: lessons from laminopathies.

scientific article

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

scientific article published on 14 February 2012

Turner syndrome strategies to improve care outcomes--cardiac evaluation using new imaging techniques

scientific article published on 01 May 2012

Turner syndrome, insulin sensitivity and growth hormone treatment

scientific article published in January 2005

Ulerythema ophryogenes and keratosis pilaris

scientific article published on 01 November 2002

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

scientific article published on 12 August 2020

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

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

scientific article published on 15 February 2008

[Behavior of C-peptide during the oral glucose tolerance test in obese children]

scientific article published on 01 April 1981

[Comparative auxological findings in monosomy X]

scientific article published on 01 January 1983

[Gonadal incretion of 17-OH-progesterone in prepubertal and pubertal subjects]

scientific article published on 01 November 1982

[Sensitivity to exogenous insulin and the efficiency and release of endogenous insulin in subjects with non-hypoglycemic hypopituitarism treated with growth hormone]

scientific article published on 01 January 1980

[Study of thyroid function in children with thalassemia major]

scientific article published on 01 October 1982

[TRH (Thyrotropin Releasing Hormone) test in normal children and in children with various forms of thyroid diseases]

scientific article published on 01 September 1975

[Therapeutic effects and tolerance of aztreonam in infections of the urinary tract in childhood]

scientific article published on 01 May 1985

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