Maria A. Pisanti

Naples, Italy

Last Updated: 09/26/2026

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Found 9 publications

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal: Journal of intellectual disability research : JIDR

Published: October 31, 2019

Further delineation of Malan syndrome.

Further delineation of Malan syndrome.

Journal: Human mutation

Published: March 28, 2018

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 07, 2017

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Journal: Journal of medical genetics

Published: November 07, 2016

Brachydactyly type E in an Italian family with 6p25 trisomy.

Brachydactyly type E in an Italian family with 6p25 trisomy.

Journal: European journal of medical genetics

Published: August 18, 2016

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

A novel 5q11.2 microdeletion in a child with mild developmental delay and dysmorphic features.

Journal: American journal of medical genetics. Part A

Published: December 04, 2015

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): a new patients series.

Journal: European journal of medical genetics

Published: March 16, 2015

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects.

Journal: Journal of medical genetics

Published: December 17, 2014

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.

Journal: Gene

Published: September 23, 2013

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Last Updated: 09/26/2026