F. Faletra

发表

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

Christian Gieger, Jingyuan Fu, Thomas Meitinger, 2011, Nature Genetics.

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

V. Guida, E. Giorgio, A. De Luca, 2021, BMC Medical Genomics.

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

L. Ronfani, M. Montico, P. Gasparini, 2009, European Journal of Human Genetics.

First‐trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low‐risk population?

T. Stampalija, Francesca Guidolin, F. Faletra, 2020, Prenatal diagnosis.

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature

L. Travan, F. Faletra, L. Memo, 2022, Italian Journal of Pediatrics.

Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

A. Morgan, P. Gasparini, D. Vozzi, 2014, American journal of medical genetics. Part A.

A next generation sequencing custom gene panel designed to distinguish isolated polydactyly from syndromic polydactyly during prenatal diagnosis

P. Maltese, M. Bertelli, F. Faletra, 2019, Congenital anomalies.

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Gianluca Bontempi, J. Vermeesch, T. Lenaerts, 2017, Genome Medicine.

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

M. Ferrari, A. Angius, A. Villa, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

K., Stevens, A. Vanderver, 2020, The Journal of clinical endocrinology and metabolism.

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

A. Morgan, P. Gasparini, G. Girotto, 2014, Gene.

A red baby should not be taken too lightly

A. Tommasini, I. Berti, F. Faletra, 2012, Acta paediatrica.

Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12.

P. Gasparini, O. Carlet, A. Fabretto, 2012, Gene.

Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: clinical and functional characterization of two novel ABCC8 mutations.

C. Stanley, P. Gasparini, S. Shyng, 2013, Gene.

Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency.

R. Badolato, A. Tommasini, E. Piscianz, 2019, Immunology letters.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

P. Gasparini, G. Girotto, M. La Bianca, 2022, American journal of medical genetics. Part A.

AB1036 AN UNSOLVED CASE: IS THIS A CANDLE-LIKE SYNDROME?

A. Tommasini, F. Faletra, A. Taddio, 2019, Abstracts Accepted for Publication.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype

D. Montanaro, A. Martinuzzi, P. Bonanni, 2017 .

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet

E. Barbi, M. C. Pellegrin, P. Costa, 2020, Italian Journal of Pediatrics.

Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

A. Morgan, G. Girotto, L. Musante, 2022, Genes.

PMM2-CDG: phenotype and genotype in four affected family members.

M. Carrozzi, G. M. Severini, S. Biffi, 2013, Gene.

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

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

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis

G. M. Severini, S. Cappellani, A. Fabretto, 2019, Molecular genetics & genomic medicine.

Deciphering the pathogenesis of the COL4‐related hematuric nephritis: A genotype/phenotype study

L. Bianchi, T. Mattina, A. Percesepe, 2020, Molecular genetics & genomic medicine.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study

M. Di Stazio, A. d'Adamo, S. Cappellani, 2022, Genes.

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.

D. Vozzi, A. Tommasini, A. Bianco, 2017, Journal of pediatric hematology/oncology.

Afebrile seizures in infants: Never forget magnesium!

G. Cozzi, P. Costa, G. Ventura, 2018, Journal of paediatrics and child health.

Could the MED13 mutations manifest as a Kabuki‐like syndrome?

A. d'Adamo, E. Barbi, A. Bianco, 2020, American journal of medical genetics. Part A.

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies

G. M. Severini, A. Tommasini, E. Piscianz, 2021, Diagnostics.

Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

P. Gasparini, Federico Fornasier, F. Faletra, 2011, Ophthalmic genetics.

Phylloid Pattern of Hypomelanosis Closely Related to Chromosomal Abnormalities in the 13q Detected by SNP Array Analysis

P. Gasparini, A. Tommasini, I. Berti, 2012, Dermatology.

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4

H. Said, K. Vecchiato, F. Faletra, 2019, Journal of Human Genetics.

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss

R. Wilson, D. Koboldt, A. Morgan, 2019, Human mutation.

When salt is needed to grow: Answers

D. Zanon, M. Pennesi, E. Barbi, 2020, Pediatric Nephrology.

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene.

A. Savoia, C. Balduini, A. Pecci, 2009, European journal of medical genetics.

Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability

P. Bosco, C. Romano, I. Gandin, 2014, Genetics in Medicine.

Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype.

V. Lougaris, A. Plebani, S. Giliani, 2015, Clinical immunology.

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population

A. Morgan, G. Girotto, C. Graziano, 2020, Genes.

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

C. Has, L. Bruckner-Tuderman, Cristina Cobzaru, 2012, The Journal of investigative dermatology.

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

A. Morgan, P. Gasparini, L. Giordano, 2013, Gene.

A Case of Prenatal Neurocytoma Associated With ATR‐16 Syndrome

T. Stampalija, R. Bussani, L. Zandonà, 2016, Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine.

Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders

A. Morgan, A. Pesaresi, G. Girotto, 2023, Genes.

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge

P. Gasparini, M. La Bianca, M. Carrozzi, 2022, Genes.

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss

A. Morgan, P. Gasparini, M. Mezzavilla, 2019, Hearing Research.

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

A. Morgan, M. Brumat, P. Gasparini, 2018, Front. Genet..

Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability.

P. Bosco, C. Romano, A. Morgan, 2015, Mutation research.

Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results.

D. Vozzi, G. Zauli, A. Tommasini, 2015, Molecular medicine reports.

Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene

P. Gasparini, A. d'Adamo, S. Biskup, 2014, American journal of medical genetics. Part A.

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome

P. Gasparini, X. Biarnés, F. Faletra, 2012, Molecular Syndromology.

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

P. Gasparini, M. Carrozzi, A. d'Adamo, 2012, American journal of medical genetics. Part A.

Type I interferon-mediated autoinflammation due to DNase II deficiency

F. Rieux-Laucat, C. Picard, Y. Crow, 2017, Nature Communications.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Meghan C Towne, Carol J. Saunders, B. V. van Bon, 2021, American journal of human genetics.

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss

A. Morgan, P. Gasparini, G. Girotto, 2021, Biomedicines.

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

Margherita Francescatto, A. Morgan, P. Gasparini, 2021, European Journal of Human Genetics.

Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients

P. Striano, V. Capra, T. Foiadelli, 2022, Genes.

Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism.

P. Gasparini, F. Faletra, V. Pecile, 2013, European journal of medical genetics.

A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements

G. Zambruno, D. Castiglia, P. Fortugno, 2012, Journal of Human Genetics.

A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease

A. Morgan, G. Girotto, M. La Bianca, 2021, Human mutation.

A. Pastore, P. Noris, M. La Bianca, 2021, Haematologica.

DENTAL PHENOTYPE IN A PATIENT WITH HYPOIDROTIC ECTODERMAL DYSPLASIA AND SEVERE IMMUNODEFICIENCY

F. Faletra, A. Vinciguerra, I. Yavuz, 2011 .

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

M. Carrozzi, L. Musante, A. Russo, 2020, Epileptic disorders : international epilepsy journal with videotape.

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome

A. Morgan, P. Gasparini, A. Fabretto, 2012, Molecular Syndromology.

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature.

P. Gasparini, F. Faletra, V. Pecile, 2012, European journal of medical genetics.

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies

A. Tommasini, E. Piscianz, F. Faletra, 2021, Frontiers in Pediatrics.

Genetic analysis of Italian patients with congenital tufting enteropathy

P. Gasparini, M. Gigante, M. Pettoello‐Mantovani, 2015, World Journal of Pediatrics.

Evidence of Inbreeding Depression on Human Height

Lorna M. Lopez, P. Visscher, A. Hofman, 2012, PLoS genetics.

A girl with photosensitivity and hepatic steatosis.

A. Ventura, F. Faletra, S. Pastore, 2014, The Journal of pediatrics.

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

L. Sangiorgi, A. Milanesi, F. Gurrieri, 2019, Calcified Tissue International.

Phenotypic expression of 19q13.32 microdeletions: Report of a new patient and review of the literature

S. Cappellani, L. Travan, F. Faletra, 2017, American journal of medical genetics. Part A.

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families

E. Mancini, V. Aiello, G. La Manna, 2020, Frontiers in Genetics.

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

P. Gasparini, A. Savoia, F. Corsolini, 2019, Molecular genetics & genomic medicine.

Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations

P. Gasparini, A. Hellani, K. Abu-Amero, 2011, Ophthalmic genetics.

A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature

P. Gasparini, M. Carrozzi, A. Fabretto, 2011, Journal of Applied Genetics.

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

S. Ulivi, S. Cappellani, T. Stampalija, 2022, Frontiers in Genetics.

Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry

L. Torelli, A. d'Adamo, A. d’Adamo, 2022, International journal of environmental research and public health.

Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes.

T. Stampalija, F. Faletra, I. Fantasia, 2021, European journal of obstetrics, gynecology, and reproductive biology.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

J. Rosenfeld, E. Roeder, J. Lupski, 2023, American journal of human genetics.

A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation

P. Gasparini, L. Lepore, A. Fabretto, 2010, Ophthalmic genetics.

A novel mutation in the vWFA2 domain of the COCH gene in an Italian DFNA9 family

P. Gasparini, N. Pirastu, F. Faletra, 2011 .

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

N. Guex, J. Chrast, A. Reymond, 2021, Human molecular genetics.

Detection of epidermal thickening in GJB2 carriers with epidermal US.

L. Ronfani, M. Montico, P. Gasparini, 2009, Radiology.

A Novel CRYBB2 Missense Mutation Causing Congenital Autosomal Dominant Cataract in an Italian Family

P. Gasparini, A. d'Adamo, S. Pensiero, 2013, Ophthalmic genetics.

A brain and heart connection: X-linked periventricular heterotopia.

A. Ventura, F. Faletra, S. Naviglio, 2015, Jornal de Pediatria.

An unusual diagnosis for an usual test

E. Barbi, F. Faletra, G. Tornese, 2020, Italian Journal of Pediatrics.

Developmental dyslexia and its complex genetic puzzle

W. Gerbino, D. Licastro, I. Lonciari, 2015 .

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta.

A. Morgan, P. Gasparini, F. Faletra, 2014, Gene.

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia

C. Mecucci, A. Savoia, N. Zini, 2021, Journal of cellular physiology.

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

T. Stampalija, R. Bussani, L. Travan, 2023, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis

V. Guida, E. Giorgio, A. De Luca, 2021, BMC medical genomics.

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes

A. Tommasini, E. Piscianz, A. Bianco, 2019, Inflammation Research.

The clinical impact of the first‐trimester nuchal translucency between the 95th–99th percentiles

L. Monasta, T. Stampalija, P. Greco, 2023 .

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

M. Carrozzi, F. Faletra, C. Zanus, 2019, Epileptic disorders : international epilepsy journal with videotape.

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

C. Nichols, C. Dionisi-Vici, J. Henquin, 2014, Clinical endocrinology.

Type I interferon-mediated autoinflammation due to DNase II deficiency

F. Rieux-Laucat, C. Picard, Naoki Kitabayashi, 2017, Nature Communications.

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series

L. Sangiorgi, A. Milanesi, F. Gurrieri, 2019, Calcified Tissue International.

Delayed Diagnosis of Glycogen Storage Disease Type III

S. Martelossi, F. Faletra, A. De Cunto, 2012, Journal of pediatric gastroenterology and nutrition.