P. Prontera

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Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

G. Scarano, A. Ferlini, B. Mandriani, 2014, Human mutation.

Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder

T. Mazza, S. Castellana, G. Merla, 2020, Journal of Medical Genetics.

Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

V. Napolioni, G. Merla, G. Testa, 2014, Journal of autism and developmental disorders.

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

M. Maghnie, L. Persani, P. Prontera, 2016, The Journal of clinical endocrinology and metabolism.

Migraine and epilepsy: what value today?

P. Calabresi, L. Cupini, P. Sarchielli, 2015, The Journal of Headache and Pain.

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

A. Mencarelli, M. Silengo, P. Prontera, 2011, American journal of medical genetics. Part A.

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Robert W. Taylor, E. Bertini, R. Carrozzo, 2016, Journal of Inherited Metabolic Disease.

Porencephaly in an Italian neonate with foetal alcohol spectrum disorder

P. Prontera, S. Esposito, G. Stangoni, 2020, Medicine.

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

Renzo Guerrini, Dalila De Vita, Carla Marini, 2017, Neurology: Genetics.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

B. D. de Vries, T. Matise, E. Boerwinkle, 2020, American journal of medical genetics. Part A.

Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging

S. Bione, P. Vineis, D. Mari, 2012, PloS one.

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly

D. Toccaceli, P. Prontera, E. Donti, 2014, American journal of medical genetics. Part A.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

G. Merla, A. Mencarelli, P. Prontera, 2017, International journal of molecular sciences.

Research Progresses in Understanding the Pathophysiology of Moyamoya Disease

A. van der Zwan, E. Parati, T. Tatlisumak, 2016, Cerebrovascular Diseases.

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

P. Ferroli, E. Parati, L. Pantoni, 2019, Neurological Sciences.

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes

P. Calabresi, P. Prontera, N. Tambasco, 2016, Journal of Neural Transmission.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

A. Migliaccio, T. Papayannopoulou, P. Prontera, 2015, Blood.

2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment.

J. Stamatoyannopoulos, A. Migliaccio, P. Prontera, 2015, Blood.

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

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis

P. Calabresi, M. D. Di Gregorio, P. Floridi, 2011, Journal of Neurology.

Small-expanded allele spinocerebellar ataxia 17: imaging and phenotypic variability

P. Calabresi, L. Parnetti, P. Prontera, 2021, Neurological Sciences.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

Expanding the genetic and clinical characteristics of Protocadherin 19 gene mutations

P. Striano, A. Verrotti, P. Prontera, 2022, BMC Medical Genomics.

2q31.2q32.3 deletion syndrome: Report of an adult patient

B. Dallapiccola, L. Bernardini, A. Novelli, 2009, American journal of medical genetics. Part A.

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

U. Grohmann, G. Mondanelli, M. L. Belladonna, 2021, Human molecular genetics.

Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.

R. Borgatti, G. Merlo, S. Mantero, 2018, Bone.

Aicardi Syndrome Associated with Autosomal Genomic Imbalance: Coincidence or Evidence for Autosomal Inheritance with Sex-Limited Expression?

A. Mencarelli, P. Prontera, E. Donti, 2013, Molecular Syndromology.

A novel mutation in the SDHD gene responsible for familial paraganglioma. Medical and psychological implications.

B. Pasini, A. Mencarelli, P. Prontera, 2008, Genetic counseling.

Hypothesis and Theory Article Hypothesis: Gonadal Temperature Influences Sex-specific Imprinting

I. Weaver, P. Prontera, E. Donti, 2022 .

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult‐onset cerebellar ataxia in Italy

G. De Michele, A. Filla, A. Tessa, 2018, European journal of neurology.

Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances

M. Esteller, P. Lapunzina, A. Verma, 2022, Clinical epigenetics.

M. Esteller, P. Lapunzina, B. H. Mele, 2022, Clinical Epigenetics.

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature

P. Calabresi, P. Prontera, G. la Marca, 2018, International journal of molecular sciences.

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants

M. Digilio, B. Dallapiccola, M. Tartaglia, 2022, Genes.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.

Nablus mask‐like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

B. V. van Bon, J. Allanson, S. Aradhya, 2012, American journal of medical genetics. Part A.

DPP6 gene disruption in a family with Gilles de la Tourette syndrome

A. Cavanna, V. Napolioni, G. Merla, 2014, neurogenetics.

A genetic-demographic approach reveals a gender-specific association of SLC6A3/DAT1 40 bp-VNTR with life-expectancy

V. Napolioni, P. Prontera, G. Passarino, 2015, Biogerontology.

F. Alkuraya, H. Bellen, G. Demmler-Harrison, 2022, Annals of clinical and translational neurology.

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

M. Digilio, C. Leoni, A. Novelli, 2021, American journal of medical genetics. Part A.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

A. Bruselles, M. Tartaglia, G. Merla, 2021, Genes.

Stem cells from human amniotic fluid exert immunoregulatory function via secreted indoleamine 2,3-dioxygenase1

U. Grohmann, C. Orabona, M. T. Pallotta, 2015, Journal of cellular and molecular medicine.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

J. Rosenfeld, M. Fichera, C. Romano, 2018, Genetics in Medicine.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

J. Rosenfeld, M. Fichera, C. Romano, 2018, bioRxiv.

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

G. Pruneri, P. Germain, G. Merla, 2014, Nature Genetics.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

A. Reymond, G. Scarano, O. Gabrielli, 2011, Orphanet journal of rare diseases.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications

P. Calabresi, L. Cupini, P. Sarchielli, 2018, Cephalalgia : an international journal of headache.

Occurrence of the same chromosome abnormalities in Ph+ and Ph− cells in chronic myeloid leukaemia. Evidence of a secondary origin of the Ph chromosome?

G. Saglio, P. Prontera, A. Liberati, 2006, British journal of haematology.

Germline PTPN11 mutation affecting exon 8 in a case of syndromic juvenile myelomonocytic leukemia.

F. Aversa, M. Tartaglia, P. Prontera, 2011, Leukemia research.

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML)

A. Mencarelli, P. Prontera, E. Donti, 2009, American journal of medical genetics. Part A.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

S. Robertson, T. de Ravel, H. Firth, 2006, Journal of Medical Genetics.

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

A. Arnsten, Y. Mineur, M. Picciotto, 2018, Cell.

Brief Report: Functional MRI of a Patient with 7q11.23 Duplication Syndrome and Autism Spectrum Disorder

V. Napolioni, G. Merla, M. Piccirilli, 2014, Journal of Autism and Developmental Disorders.

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

M. Maghnie, M. Clementi, G. Ferrero, 2016, Clinical Epigenetics.

Erratum to: A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes

M. Maghnie, M. Clementi, G. Ferrero, 2016, Clinical Epigenetics.

Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

E. Calzolari, A. Ferlini, P. Prontera, 2006, Prenatal diagnosis.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

S. Bianca, R. Tenconi, T. Mazza, 2021, International journal of molecular sciences.

Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3

J. Graham, F. Alkuraya, N. Hauser, 2021, American journal of medical genetics. Part A.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

A. Capuano, M. Tartaglia, E. Agolini, 2021, Clinical Epigenetics.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile

A. Capuano, M. Tartaglia, E. Agolini, 2021, Clinical epigenetics.

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

G. Merla, A. Mencarelli, B. Sadikovic, 2021, International journal of molecular sciences.

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

A. Bayat, H. Stewart, K. Lachlan, 2020, American journal of medical genetics. Part A.

Induction of epileptic negative myoclonus by addition of lacosamide to carbamazepine

P. Prontera, V. Belcastro, M. Arnaboldi, 2011, Epilepsy & Behavior.

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

T. Meitinger, T. Strom, A. F. Stewart, 2015, The Journal of clinical investigation.

Clinical findings in patients with RAP 1 A / RAP 1 B mutations Symptom Frequency in KSA RAP 1 A patient RAP 1

T. Meitinger, T. Strom, A. F. Stewart, 2015 .

Shapiro's syndrome: Defining the clinical spectrum of the spontaneous paroxysmal hypothermia syndrome.

P. Calabresi, P. Prontera, V. Belcastro, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin

M. Elia, P. Prontera, V. Belcastro, 2011, American journal of medical genetics. Part A.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Familial occurrence of multiple pterygium syndrome: Expression in a heterozygote of the recessive form or variability of the dominant form?

E. Calzolari, G. Cocchi, P. Prontera, 2006, American journal of medical genetics. Part A.

Deletion 2p15–16.1 syndrome: Case report and review

B. Dallapiccola, L. Bernardini, P. Prontera, 2011, American journal of medical genetics. Part A.

SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome

G. Meroni, F. Faravelli, P. Prontera, 2022, Genes.

Cytogenetic and array CGH characterization of an intrachromosomal complex rearrangement of 4q in a patient with a 4q‐phenotype

S. Volinia, E. Calzolari, P. Prontera, 2008, American journal of medical genetics. Part A.

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

P. Gasparini, G. Ferrero, L. Salviati, 2015, Human Genetics.

Intestinal lymphangiectasia in a 3-month-old girl

P. Prontera, S. Esposito, Elisabetta Mencaroni, 2020, Medicine.

A case report of Hennekam syndrome caused by CCBE1 mutation

P. Prontera, S. Esposito, Elisabetta Mencaroni, 2020 .

A novel MED12 mutation: Evidence for a fourth phenotype

A. V. Vulto-van Silfhout, G. Merla, A. Mencarelli, 2016, American journal of medical genetics. Part A.

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

G. Hendy, A. Mencarelli, A. Verrotti, 2017, The Journal of clinical endocrinology and metabolism.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.3-31.3 deletion: case report and review.

L. Bernardini, P. Prontera, E. Donti, 2011, Genetic counseling.

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri–Weill Dyschondrosteosis

A. Mencarelli, P. Prontera, S. Esposito, 2018, Front. Endocrinol..

Imerslund-Gräsbeck Syndrome in an Infant with a Novel Intronic Variant in the AMN Gene: A Case Report

P. Prontera, S. Esposito, M. Stefanelli, 2019, International Journal of Molecular Sciences.

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2

A. Lang, N. Williams, A. Plate, 2018, Neurology.

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy

P. Calabresi, L. Cupini, P. Sarchielli, 2014, Cephalalgia : an international journal of headache.

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

A. Mencarelli, P. Prontera, S. Esposito, 2018, International journal of molecular sciences.

Paracentric inversion of Yq and review of the literature.

E. Calzolari, P. Prontera, A. Sensi, 2007, Genetic Counseling.

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

F. Benfenati, P. Striano, C. Depienne, 2021, Neurology.

Hot water epilepsy and Mccune–Albright syndrome: A case report

L. Parnetti, P. Prontera, V. Belcastro, 2009, Seizure.

Deletion 2 p 15 – 16 . 1 Syndrome : Case Report and Review

B. Dallapiccola, L. Bernardini, P. Prontera, 2011 .

A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

A. Ferlini, A. Mencarelli, P. Prontera, 2020, American journal of medical genetics. Part A.

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome

V. Napolioni, G. Merla, L. Micale, 2015, Human mutation.

Seizure aggravation caused by antiepileptic drugs in a patient with muscle–eye–brain disease

P. Calabresi, S. Messina, M. Elia, 2010, Epilepsy & Behavior.

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro‐anophthalmia

A. Mencarelli, P. Prontera, E. Donti, 2011, American journal of medical genetics. Part A.

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

A. Battaglia, D. Earl, L. Bernardini, 2014, European Journal of Human Genetics.

A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy

P. Prontera, S. Esposito, N. Principi, 2018, International journal of molecular sciences.

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

G. Merla, L. Micale, C. Fusco, 2012, Molecular genetics and metabolism.

Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature

P. Prontera, S. Esposito, N. Principi, 2017, International journal of molecular sciences.

FOXI3 pathogenic variants cause one form of craniofacial microsomia

J. Lupski, Xiaogang Wang, S. Antonarakis, 2023, Nature Communications.

Long-term follow-up in pediatric patients with paroxysmal hypothermia (Shapiro's syndrome).

P. Striano, S. Savasta, A. Verrotti, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson's disease.

N. Hattori, H. Yoshino, P. Prontera, 2020, Parkinsonism & related disorders.

Epm2a R240X knock-in mice present earlier cognitive decline and more epileptic activity than Epm2a −/− mice

C. Worby, J. Serratosa, M. Sciaccaluga, 2023, Neurobiology of Disease.

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening

A. Mencarelli, A. Verrotti, P. Prontera, 2016, Public Health Genomics.

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

P. Lockhart, M. Fichera, C. Romano, 2023, medRxiv.

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

P. Calabresi, L. Parnetti, A. Brusco, 2011, European journal of neurology.

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

G. Merla, A. Mencarelli, P. Prontera, 2019, European Journal of Human Genetics.