List of works - Melissa Parisi

A Gender Assessment Team: experience with 250 patients over a period of 25 years

scientific article published on June 2007

A case of true hermaphroditism reveals an unusual mechanism of twinning

scientific article

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

scientific article published in April 2006

Ambiguous genitalia: What prenatal genetic testing is practical? ⬇️

scientific article published on May 11, 2012

Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12 ⬇️

scientific article published on December 28, 2012

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

scientific article

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

scientific article published in March 2004

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

scientific article published on 3 November 2017

Cilia and the ciliopathies: an introduction

scientific article published on 01 November 2009

Clinical and molecular features of Joubert syndrome and related disorders

scientific article

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome

scientific article

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

scientific article

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas

scientific article

Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors

scientific article published on 01 May 2005

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide

scientific article

Down syndrome: national conference on patient registries, research databases, and biobanks

scientific article

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

scientific article published on 01 May 2003

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

scientific article published on 19 September 2019

Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction

scientific article

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

scientific article

Eye movement abnormalities in Joubert syndrome

scientific article published on 14 May 2009

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

scientific article published on 27 May 2011

Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice

scientific article published on November 2003

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

scientific article published in February 2012

Healthcare recommendations for Joubert syndrome

scientific article published on 11 November 2019

Hirschsprung Disease Overview

scientific article published in October 2015

Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- mice

scientific article published in March 2005

Human malformations of the midbrain and hindbrain: review and proposed classification scheme

scientific article

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

scientific article published in February 2002

Joubert Syndrome

scientific article published on 29 June 2017

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

scientific article published on 25 July 2018

Joubert syndrome (and related disorders) (OMIM 213300).

scientific article published on 21 March 2007

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

scientific article published in March 2004

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

scientific article published on 13 January 2017

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

scientific article published on 21 October 2015

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

scientific article

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

scientific article

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes

scientific article published in March 2004

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

scientific article published on 26 January 2017

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

scientific article published on 6 July 2007

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

scientific article

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome

scientific article published in June 2004

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

scientific article published on 14 April 2016

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

scientific article published on 12 May 2017

Newborn Screening: Beyond the Spot

scientific article published in January 2017

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

scientific article published on 20 September 2016

Phenylketonuria Scientific Review Conference: state of the science and future research needs

scientific article published on 6 March 2014

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

scientific article

Prospective Evaluation of Kidney Disease in Joubert Syndrome

scientific article published on 16 November 2017

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

scientific article

The National Institutes of Health Neurobiobank: a federated national network of human brain and tissue repositories.

scientific article published on 25 September 2013

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

scientific article published on 04 July 2019

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene

scientific article published on 01 February 2007

We don't know what we don't study: The case for research on medication effects in pregnancy ⬇️

scientific article published on July 15, 2011

List of works by Melissa Parisi

A Gender Assessment Team: experience with 250 patients over a period of 25 years

A case of true hermaphroditism reveals an unusual mechanism of twinning

A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance.

Ambiguous genitalia: What prenatal genetic testing is practical? ⬇️

Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12 ⬇️

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.

Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated At A Single Center

Cilia and the ciliopathies: an introduction

Clinical and molecular features of Joubert syndrome and related disorders

Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome

Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects?

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies.

Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas

Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors

DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide

Down syndrome: national conference on patient registries, research databases, and biobanks

Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

Evaluation of Hox11L1 in the fmc/fmc rat model of chronic intestinal pseudo-obstruction

Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism

Eye movement abnormalities in Joubert syndrome

Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene

Genetic background modifies intestinal pseudo-obstruction and the expression of a reporter gene in Hox11L1-/- mice

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Healthcare recommendations for Joubert syndrome

Hirschsprung Disease Overview

Hox11L1 expression by precursors of enteric smooth muscle: an alternative explanation for megacecum in HOX11L1-/- mice

Human malformations of the midbrain and hindbrain: review and proposed classification scheme

Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

Joubert Syndrome

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Joubert syndrome (and related disorders) (OMIM 213300).

Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome

Micropenis with testicular regression, low LH levels, and poor androgen and HCG responses: a distinct syndrome?

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome

Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

Newborn Screening: Beyond the Spot

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Phenylketonuria Scientific Review Conference: state of the science and future research needs

Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.

Prospective Evaluation of Kidney Disease in Joubert Syndrome

The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome

The National Institutes of Health Neurobiobank: a federated national network of human brain and tissue repositories.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Variable presentation of nemaline myopathy: novel mutation of alpha actin gene

We don't know what we don't study: The case for research on medication effects in pregnancy ⬇️