Lista de obras - Laura Mazzanti - Dominio Público Uruguay

A case of pseudohypoparathyroidism with osteitis fibrosa cystica

artículo científico publicado el 3 de noviembre de 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Auxological and anthropometric evaluation in skeletal dysplasias.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado el 4 de agosto de 1976

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

artículo científico publicado en 2017

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

artículo científico publicado en 1977

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

artículo científico publicado en 2009

Developmental syndromes: growth hormone deficiency and treatment

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

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

artículo científico publicado el 1 de mayo de 1979

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

artículo científico publicado el 1 de mayo de 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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado el 1 de noviembre de 1976

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

Growth and sport.

artículo científico publicado en 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.

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Heart disease in Turner's syndrome

scientific article published on 01 August 1988

Helicobacter pylori and type 1 diabetes mellitus in children

artículo científico publicado en 1999

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

artículo científico publicado en 2010

Hypophyso-gonadal function in the diabetic child ⬇️

artículo científico publicado el 1 de marzo de 1978

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

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

artículo científico publicado en 1998

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

artículo científico publicado en 1997

Pituitary-gonadal function in obese children

artículo científico publicado el 19 de mayo de 1977

Prevalence and clinical picture of celiac disease in Turner syndrome.

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 1979

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

artículo científico publicado en 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.

artículo científico publicado en 2015

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

artículo científico publicado el 17 de noviembre de 1975

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

Turner syndrome, insulin sensitivity and growth hormone treatment

artículo científico publicado en 2005

Ulerythema ophryogenes and keratosis pilaris

artículo científico publicado en 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

artículo científico publicado en 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]

artículo científico publicado en 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]

artículo científico publicado en 1982

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

artículo científico publicado en 1975

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

artículo científico publicado en 1985

Lista de obras de Laura Mazzanti

A case of pseudohypoparathyroidism with osteitis fibrosa cystica

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

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

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

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

Auxological and anthropometric evaluation in skeletal dysplasias.

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

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

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

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

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

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

Developmental syndromes: growth hormone deficiency and treatment

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

Growth and sport.

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.

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

Heart disease in Turner's syndrome

Helicobacter pylori and type 1 diabetes mellitus in children

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

Hypophyso-gonadal function in the diabetic child ⬇️

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

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

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

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

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

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

Neuropsychiatric phenotype in a child with pseudohypoparathyroidism

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

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

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

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

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

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

Pituitary-gonadal function in obese children

Prevalence and clinical picture of celiac disease in Turner syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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.

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

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

Turner syndrome, insulin sensitivity and growth hormone treatment

Ulerythema ophryogenes and keratosis pilaris

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

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

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

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

[Comparative auxological findings in monosomy X]