List of works - Donatella Milani

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

scientific article

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

scientific article published on 19 December 2016

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

scientific article published on 14 July 2015

7p22.1 microduplication syndrome: Refinement of the critical region

scientific article published on 16 November 2016

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

scientific article published on 2 June 2010

A case report with the peculiar concomitance of 2 different genetic syndromes.

scientific article published on December 2016

A multidisciplinary approach in neurofibromatosis 1

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

scientific article published on 22 January 2013

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

scientific article published on 16 April 2018

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

scientific article published in January 2005

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

scientific article published on 01 June 2009

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

scientific article published in April 2009

Anomalies of the kidney and urinary tract are common in de Lange syndrome

scientific article published on 01 February 2005

Another patient with MECP2 mutation without classic Rett syndrome phenotype

scientific article published on 01 May 2005

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

scientific article published in 2022

Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5

scientific article published on 25 September 2020

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

scientific article

Biliary atresia and Kabuki syndrome: another case with long-term follow-up

scientific article published on 01 May 2001

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

scientific article published on 25 March 2015

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

scientific article published on 21 October 2018

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

scientific article published on 8 November 2007

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

scientific article published on 17 February 2014

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients

scientific article published on 13 January 2011

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

scientific article

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

scientific article (publication date: August 2007)

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

scientific article published on 04 December 2018

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

scientific article published on 7 February 2014

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case.

scientific article published in July 2007

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

scientific article published on 31 August 2016

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay

scientific article published on 01 December 2006

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

scientific article published on 30 October 2013

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

scientific article published on 07 January 2014

Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome.

scientific article published on 21 September 2015

Ehlers-Danlos syndrome versus cleidocranial dysplasia.

scientific article published on 24 May 2014

Electroclinical phenotype in Rubinstein-Taybi syndrome.

scientific article published on 8 February 2016

Fetal growth patterns in Beckwith-Wiedemann syndrome.

scientific article published on 9 February 2016

Fragile X syndrome: a review of clinical and molecular diagnoses

scientific article

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

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

scientific article published on 01 June 2003

HOXA genes cluster: clinical implications of the smallest deletion.

scientific article

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

scientific article published on 20 October 2015

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

scientific article

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

scientific article published on 3 August 2017

Insights into 6Q21-Q22: Refinement of the critical region for acro-cardio-facial syndrome.

scientific article published on 31 March 2016

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

scientific article published on 12 November 2014

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

scientific article published on 11 January 2016

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

scientific article published on 25 December 2016

Is it time to change the neurofibromatosis 1 diagnostic criteria?

scientific article published on 29 April 2014

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

scientific article published on 3 November 2016

Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature

scientific article published on 03 May 2018

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

scientific article published on May 2015

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

scientific article published in April 2005

Neurological phenotype of Potocki-Lupski syndrome

scientific article published on 15 August 2020

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

scientific article published on 01 February 2008

Perthes disease: A new finding in Floating-Harbor syndrome.

scientific article published on 31 January 2018

Potential impact of fetal genotype on maternal blood pressure during pregnancy

scientific article published on 01 March 2015

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

scientific article published on 19 August 2009

Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients

scientific article published on 10 November 2020

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

scientific article

Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.

scientific article published on 9 October 2002

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

scientific article published on 7 July 2015

Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?

scientific article published on 01 November 2002

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

scientific article

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

scientific article published on 10 April 2018

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

scientific article

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

scientific article published on 16 September 2008

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

scientific article published on 24 September 2014

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

scientific article published on 21 September 2020

Syndromic obesity: clinical implications of a correct diagnosis.

scientific article

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

scientific article published on 27 July 2017

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

scientific article

Think about it: FMR1 gene mosaicism.

scientific article published on 23 September 2013

Thyroid anomalies in Williams syndrome: investigation of 95 patients

scientific article published on 01 May 2006

Treatment of neurofibromatosis type 1.

scientific article published on June 2015

Unexpected phenotype in a frameshift mutation of PTCH1

scientific article published on 02 October 2019

Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines

scientific article published on 04 September 2015

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

scientific article published on 9 April 2006

ZC4H2 deletions can cause severe phenotype in female carriers.

scientific article published on 27 March 2017

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability

scientific article published on 30 May 2018

List of works by Donatella Milani

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome

7p22.1 microduplication syndrome: Refinement of the critical region

A 12.4 Mb duplication of 17q11.2q12 in a patient with psychomotor developmental delay and minor anomalies.

A case report with the peculiar concomitance of 2 different genetic syndromes.

A multidisciplinary approach in neurofibromatosis 1

A novel mosaicNSD1intragenic deletion in a patient with an atypical phenotype

A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss

Anomalies of the kidney and urinary tract are common in de Lange syndrome

Another patient with MECP2 mutation without classic Rett syndrome phenotype

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene

Biliary atresia and Kabuki syndrome: another case with long-term follow-up

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire

Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders

Clinical and molecular characterization of Italian patients affected by Cohen syndrome.

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients

Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome.

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Communication, cognitive development and behavior in children with Cornelia de Lange Syndrome (CdLS): preliminary results.

Craniodigital syndrome of Scott: clinical and neuroradiological features of a new case.

Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy.

De novo duplication of chromosome 13(q32-q34) in a child with developmental delay

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes ⬇️

Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?

Eating epilepsy characterised by late-onset epileptic spasms in a case of Cri du chat syndrome.

Ehlers-Danlos syndrome versus cleidocranial dysplasia.

Electroclinical phenotype in Rubinstein-Taybi syndrome.

Fetal growth patterns in Beckwith-Wiedemann syndrome.

Fragile X syndrome: a review of clinical and molecular diagnoses

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

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms

HOXA genes cluster: clinical implications of the smallest deletion.

Hepatoblastoma in Rubinstein-Taybi Syndrome: A Case Report

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Insights into 6Q21-Q22: Refinement of the critical region for acro-cardio-facial syndrome.

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients

Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

Is it time to change the neurofibromatosis 1 diagnostic criteria?

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

Mayer–Rokitansky–Küster–Hauser Syndrome and 16p11.2 Recurrent Microdeletion: A Case Report and Review of the Literature

Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth.

Neurological phenotype of Potocki-Lupski syndrome

Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome

Perthes disease: A new finding in Floating-Harbor syndrome.

Potential impact of fetal genotype on maternal blood pressure during pregnancy

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Pulmonary function in Williams-Beuren syndrome: Spirometric data of 22 Italian patients

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome.

Response to "Characteristics of 2p15-p16.1 microdeletion syndrome: review and description of two additional patients".

Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

Search for genomic imbalances in a cohort of 24 Cornelia de Lange patients negative for mutations in the NIPBL and SMC1L1 genes.

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

Sleep disordered breathing and daytime hypoventilation in a male with MECP2 mutation

Syndromic obesity: clinical implications of a correct diagnosis.

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome

Think about it: FMR1 gene mosaicism.

Thyroid anomalies in Williams syndrome: investigation of 95 patients

Treatment of neurofibromatosis type 1.

Unexpected phenotype in a frameshift mutation of PTCH1

Vaccination coverage of children with rare genetic diseases and attitudes of their parents toward vaccines

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

ZC4H2 deletions can cause severe phenotype in female carriers.

iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability