F. Faravelli

发表

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

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

Growth hormone, gender and face shape in prader–willi syndrome

P. Hammond, M. Suttie, A. Holland, 2013, American journal of medical genetics. Part A.

Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals

A. Vignoli, S. Savasta, C. Pantaleoni, 2021, Epilepsy & Behavior.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

C. Romano, R. Borgatti, R. Tenconi, 2001, Journal of medical genetics.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

L. Monti, F. Natacci, B. Bernardina, 2012, Molecular Cytogenetics.

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

M. Digilio, B. Gelb, B. Dallapiccola, 2009, Human mutation.

19q13 microdeletion syndrome: Further refining the critical region.

R. Bloise, F. Faravelli, D. Coviello, 2012, European journal of medical genetics.

3q26.33-3q27.2 microdeletion: a new microdeletion syndrome?

J. Hoffman, G. Mandrile, F. Faravelli, 2013, European journal of medical genetics.

The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment

F. Faravelli, F. Forzano, L. Perroni, 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Fetal aortic root dilation: a prenatal feature of the Loeys‐Dietz syndrome

H. Dietz, F. Faravelli, F. Forzano, 2006, Prenatal diagnosis.

Unusual clustering of brain tumours in a family with NF1 and variable expression of cutaneous features

S. Huson, M. Upadhyaya, M. Osborn, 1999, Journal of medical genetics.

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

R. Tenconi, G. Neri, S. Savasta, 2007, Human Genetics.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

N. Rahman, D. Horn, Soma Das, 2005, American journal of human genetics.

Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

G. Neri, G. Capovilla, A. Selicorni, 2003, American journal of human genetics.

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

C. Schwartz, S. Lenzner, H. Van Esch, 2005, Journal of Medical Genetics.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

Mark T. Handley, B. Hartmann, A. Ebert, 2013, American journal of human genetics.

Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype

F. Licata, E. Terazzi, S. Savasta, 2013, American journal of medical genetics. Part A.

Immune dysregulation, polyendocrinopathy, enteropathy, X‐linked syndrome (IPEX): report of the first prenatal mutation testing

R. Cusano, F. Faravelli, C. Baldo, 2006, Prenatal diagnosis.

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

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Mowat–Wilson syndrome: Facial phenotype changing with age: Study of 19 Italian patients and review of the literature

S. Bernasconi, M. P. Sperandeo, L. Garavelli, 2009, American journal of medical genetics. Part A.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

E. Bertini, R. Borgatti, R. Hennekam, 2012, Orphanet Journal of Rare Diseases.

CDKN2A is the main susceptibility gene in Italian pancreatic cancer families

P. Queirolo, S. Gargiulo, S. Sciallero, 2012, Journal of Medical Genetics.

Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

G. Ferrero, M. Silengo, F. Faravelli, 2006, American journal of medical genetics. Part A.

Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: A variant of polyfibromatosis?

F. Paparo, F. Faravelli, M. Papadia, 2013, American journal of medical genetics. Part A.

Craniofacial characteristics of fragile X syndrome in mouse and man

P. Hammond, M. Suttie, R. Kooy, 2012, European Journal of Human Genetics.

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Dongsup Kim, W. Park, K. Girisha, 2016, American journal of human genetics.

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

G. Scarano, G. Neri, C. Pantaleoni, 2005, American journal of medical genetics. Part A.

P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

C. Marco-Marín, V. Rubio, F. Faravelli, 2019, Annals of clinical and translational neurology.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

George H. Thomas, Julie De Backer, Paul Coucke, 2006 .

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

P. Byers, D. Milewicz, H. Dietz, 2006, The New England journal of medicine.

Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis.

R. Cusano, F. Faravelli, C. Baldo, 2005, Child: care, health and development.

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Peter Hammond, Francesca Forzano, Oliver Quarrell, 2011, European Journal of Human Genetics.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome

M. Ross, G. Captier, C. Gondry-Jouet, 2019, Nature Genetics.

Liver iron accumulation in chronic hepatitis C patients without HFE mutations: relationships with histological damage, viral load and genotype and α-glutathione S-transferase levels

R. Testa, A. Fasoli, G. Icardi, 2001, European journal of gastroenterology & hepatology.

Seizure control and treatment in pregnancy

S. Kochen, M. Bacher, B. Steinhoff, 2006, Neurology.

Comparative risk of major congenital malformations with eight different antiepileptic drugs: a prospective cohort study of the EURAP registry

S. Kochen, A. Carius, B. Steinhoff, 2018, The Lancet Neurology.

Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Nerve Atrophy (PEHO)-Like Syndrome: What Diagnostic Characteristics Are Defining?

D. Riva, C. Pantaleoni, F. Faravelli, 2005, Journal of child neurology.

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

M. D'urso, F. Fusco, M. Miano, 2009, Human mutation.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

6q Terminal Deletion Syndrome Associated with a Distinctive EEG and Clinical Pattern: A Report of Five Cases

M. Fichera, C. Romano, P. Striano, 2006, Epilepsia.

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

G. Neri, A. Bentivegna, A. Selicorni, 2006, BMC Medical Genetics.

Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations

S. Cavani, F. Faravelli, G. Piombo, 2003, Prenatal diagnosis.

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

De novo balanced chromosome rearrangements in prenatal diagnosis

G. Voglino, F. Torricelli, E. Sala, 2009, Prenatal diagnosis.

Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients

R. Cusano, F. Faravelli, C. Baldo, 2005, Human mutation.

NSD1 mutations in Sotos syndrome

F. Faravelli, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical heterogeneity of familial pseudohypoparathyroidism

F. Faravelli, L. Foppiani, A. Marugo, 2006, Journal of endocrinological investigation.

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases

P. Striano, A. Coppola, F. Zara, 2006, American journal of medical genetics. Part A.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father

B. Zabel, F. Faravelli, F. Forzano, 2007, American journal of medical genetics. Part A.

Prenatal diagnosis of Gollop‐Wolfgang Complex

S. Cavani, F. Faravelli, F. Forzano, 2009, Prenatal diagnosis.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene

C. Izzi, F. Lalatta, F. Faravelli, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

R. Tenconi, E. Lucci-Cordisco, G. Neri, 2007, Genomics.

X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

J. Casanova, S. Proll, F. Ramsdell, 2001, Nature Genetics.

Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Mark T. Handley, I. Jackson, I. Glass, 2013, Human mutation.

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

O. Zuffardi, G. Ferrero, M. Silengo, 2009, Italian journal of pediatrics.

Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes

F. Faravelli, F. Bricarelli, M. Di Rocco, 2007, 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.

Setleis syndrome: genetic and clinical findings in a new case with epilepsy.

R. Desnick, L. Edelmann, F. Faravelli, 2014, Pediatric neurology.

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

M. P. Sperandeo, G. Andria, P. Chiurazzi, 1999, American journal of medical genetics.

Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype

L. Monti, F. Natacci, B. Bernardina, 2012, Molecular Cytogenetics.

Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis

F. Lalatta, F. Faravelli, S. Forzano, 2010, European Journal of Pediatrics.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

E. Fernández, C. Bagni, E. Gennaro, 2018, Front. Genet..

Oligoyric microcephaly in a child with Williams syndrome

D. Riva, L. D'Incerti, C. Pantaleoni, 2002, American journal of medical genetics. Part A.

A case of autism with an interstitial 1q deletion (1q23.3‐24.2) and a de novo translocation of chromosomes 1q and 5q

G. Scarano, D. Luquetti, O. Zuffardi, 2007, American journal of medical genetics. Part A.

Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype.

A. Selicorni, F. Faravelli, 2000, American journal of medical genetics.

Cannabis and Psychosis: A Systematic Review of Genetic Studies

M. Casacchia, F. Faravelli, R. Pollice, 2013 .

Crisponi syndrome: Report of a further patient

F. Faravelli, P. Accorsi, L. Giordano, 2003, American journal of medical genetics. Part A.

Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

C. Frassoni, R. Spreafico, A. Vignoli, 2009, American journal of medical genetics. Part A.

Prevalence and determinants of preconception folic acid use: an Italian multicenter survey

G. Scarano, R. M. Nilsen, E. Leoncini, 2016, Italian Journal of Pediatrics.

BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus

C. Rooryck, F. Faravelli, C. Coutton, 2015, Proceedings of the National Academy of Sciences.

Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: further case of Hennekam syndrome with a severe phenotype.

F. Faravelli, M. Di Rocco, F. Forzano, 2002, American journal of medical genetics.

FRAXE mutation in a mentally retarded subject and in his phenotypically normal twin brother

S. Cavani, F. Faravelli, F. Bricarelli, 2000, European Journal of Human Genetics.

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.

F. Faravelli, T. Cullup, L. Wilson, 2019, Clinical dysmorphology.

Recurrence of Mowat–Wilson syndrome in siblings with a novel mutation in the ZEB2 gene

C. Pantaleoni, L. Garavelli, F. Faravelli, 2008, American journal of medical genetics. Part A.

The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype.

F. Faravelli, F. Forzano, M. Cecconi, 2010, Molecular and cellular probes.

A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.

F. Faravelli, P. Grammatico, F. Forzano, 2008, Journal of Molecular Diagnostics.

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Alison M. Male, S. Mansour, L. Chitty, 2018, Genetics in Medicine.

A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development

M. Zenker, F. Faravelli, F. Forzano, 2012, Clinical Dysmorphology.

Prevalence of maternal preconception risk factors: an Italian multicenter survey

G. Scarano, R. M. Nilsen, E. Leoncini, 2014, Italian Journal of Pediatrics.

Possible influence of a non-synonymous polymorphism located in the NGF precursor on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment.

D. Galimberti, M. Tabaton, E. Scarpini, 2012, Journal of Alzheimer's Disease.

Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with Incontinentia Pigmenti.

M. D'urso, F. Fusco, M. Miano, 2009, Human mutation.

Absent abdominal musculature in a girl.

D. Bockenhauer, F. Faravelli, I. Mushtaq, 2022, Kidney International.

RPGRIP1L mutations are mainly associated with the cerebello‐renal phenotype of Joubert syndrome‐related disorders

T. Sanger, E. Bertini, M. Koenig, 2008, Clinical genetics.

Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation

A. Martelli, E. Giorgio, F. Faravelli, 2011, Cancer Chemotherapy and Pharmacology.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Is Hardikar syndrome distinct from Kabuki (Niikawa–Kuroki) syndrome?

G. Merla, L. Zelante, F. Faravelli, 2011, Clinical genetics.

Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: A new syndrome?

P. Striano, F. Zara, C. Minetti, 2010, Movement disorders : official journal of the Movement Disorder Society.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.