L. Zelante

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Nature Genetics Advance Online Publication Genetic Association Study of Qt Interval Highlights Role for Calcium Signaling Pathways in Myocardial Repolarization

Michael J Ackerman, Christian Gieger, Thomas Meitinger, 2022 .

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

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

Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

X. Estivill, G. Borsani, A. Ballabio, 2001, Human molecular genetics.

Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.

L. Muscarella, P. Bracco, L. Zelante, 2011, European journal of orthodontics.

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

E. Bertini, M. Rocchi, T. Meitinger, 1998, American journal of human genetics.

Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation")

D. Girelli, O. Olivieri, P. Gasparini, 1995, Blood.

A homozygous GJA1 gene mutation causes a Hallermann‐Streiff/ODDD spectrum phenotype

B. Dallapiccola, A. Pizzuti, R. Mingarelli, 2004, Human mutation.

Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder

T. Wassink, S. Puglisi‐Allegra, P. Gasparini, 2001, Molecular Psychiatry.

Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene

R. Ravazzolo, M. Bolognesi, P. Koivisto, 2002, Human Genetics.

Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis

A. Andriulli, A. Piepoli, F. Perri, 2003, European Journal of Human Genetics.

Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement.

M. Bisceglia, L. Muscarella, T. Scarabino, 2006, Neurosurgical focus.

Haematologica 1998 ; 83 : 533-542 molecular basis of disease

A. Savoia, L. Zelante, M. d'Apolito, 2005 .

Molecular basis of Fanconi anemia.

A. Savoia, L. Zelante, M. d'Apolito, 1998, Haematologica.

Characterization of the 5' region of the Fanconi anaemia group C (FACC) gene.

M. Buchwald, A. Savoia, L. Zelante, 1995, Human molecular genetics.

Gene‐targeted deletion of OPCML and Neurotrimin in mice does not yield congenital heart defects

A. Wynshaw-Boris, L. Zelante, Xiaodong Li, 2014, American journal of medical genetics. Part A.

Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss.

M. Carella, R. Santarelli, L. Zelante, 2009, International journal of pediatric otorhinolaryngology.

Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

X. Estivill, N. López-Bigas, P. Gasparini, 2002, Human mutation.

Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis

S. Castellana, L. Zelante, L. Bisceglia, 2016, Journal of Human Genetics.

Molecular analysis of the HuD gene in neuroendocrine lung cancers.

K. Kok, M. Carella, M. Bisceglia, 2010, Lung Cancer.

Hereditary Thrombocytopenia due to Reduced Platelet Production

A. Savoia, A. Iolascon, P. Strippoli, 2000, Thrombosis and Haemostasis.

Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene.

D. Girelli, O. Olivieri, P. Gasparini, 1997, Blood.

Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: Identification of three novel mutations and of two new polymorphisms

P. Gasparini, R. Mingarelli, L. Zelante, 1996, Human Genetics.

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant

P. Gasparini, B. Dallapiccola, L. Zelante, 1995, Clinical genetics.

Hemangioblastomas of Central Nervous System: Molecular Genetic Analysis and Clinical Management

L. Muscarella, L. Zelante, D. Catapano, 2005, Neurosurgery.

Constitutional ring chromosome 11 mosaicism in a Wilms tumor patient: Cytogenetic, molecular and clinico‐pathological studies

P. Radice, M. Carella, L. Zelante, 2010, American journal of medical genetics. Part A.

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

M. Carella, L. Zelante, O. Palumbo, 2016, Molecular Cytogenetics.

Molecular Analysis of NPHS2 and ACTN4 Genes in a Series of 33 Italian Patients Affected by Adult-Onset Nonfamilial Focal Segmental Glomerulosclerosis

G. Gatta, L. Muscarella, L. Zelante, 2004, Nephron Clinical Practice.

Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci.

K. Zerres, F. Scolari, A. Amoroso, 2006, American journal of human genetics.

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.

S. Ulivi, F. Scolari, A. Amoroso, 2009, Journal of nephrology.

Cloning of a new gene (FB19) within HLA class I region.

J. Rommens, P. Gasparini, M. Carella, 1998, Biochemical and biophysical research communications.

MODY type 2 P59S GCK mutant: founder effect in South of Italy

M. Carella, L. Zelante, E. Bellacchio, 2013, Clinical genetics.

Development of real-time quantitative reverse transcription-PCR for Her2 detection in peripheral blood from patients with breast cancer.

M. Copetti, M. Garrubba, M. Carella, 2007, Clinica chimica acta; international journal of clinical chemistry.

Myocylin Gln368stop Mutation and Advanced Age as Risk Factors for Late-Onset Primary Open-Angle Glaucoma

P. Gasparini, N. Orzalesi, A. Angius, 2000 .

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

(TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.

A. Savoia, A. Iolascon, L. Zelante, 1999, Haematologica.

Transforming Growth Factor‐β1 Gene Polymorphism, Bone Turnover, and Bone Mass in Italian Postmenopausal Women

Marco Lorenzi, P. Gasparini, A. Iolascon, 2000 .

Frequency of consanguineous marriages among parents and grandparents of Down patients

M. Devoto, R. Tenconi, L. Zelante, 2004, Human Genetics.

Fusion of vertebrae, diaphragmatic hernia and unusual facies in a girl: a possible further case of Mathieu syndrome

L. Zelante, Maria M Ruscitto, 2003, Clinical dysmorphology.

Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene.

P. Gasparini, M. Carella, D. Bonneau, 1998, Molecular and cellular probes.

Juvenile hemochromatosis locus maps to chromosome 1q.

M. Cazzola, P. Gasparini, M. Carella, 1999, American journal of human genetics.

Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from North-Eastern Italy: identification of 90% of the mutations

P. Pignatti, P. Gasparini, C. Castellani, 1995, Human Genetics.

Homozygosity for a novel splice site mutation (2790-2 A--->G) preceding exon 15 of the CFTR gene in a cystic fibrosis patient of North-East Italian descent.

P. Pignatti, P. Gasparini, C. Bombieri, 1995, Molecular and cellular probes.

An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review

M. Miroballo, M. Carella, L. Zelante, 2012, American journal of medical genetics. Part A.

Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter).

S. Perrotta, P. Gasparini, M. Carella, 1998, American journal of human genetics.

New polymorphisms and markers in the HLA class I region: relevance to hereditary hemochromatosis (HFE)

P. Gasparini, L. Zelante, C. Camaschella, 1995, Human Genetics.

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

X. Estivill, P. Gasparini, M. Nadal, 1996, Pediatric Nephrology.

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

X. Estivill, M. Gallucci, P. Gasparini, 1997, American journal of human genetics.

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

A. Savoia, L. Zelante, G. Favia, 1999, Clinical genetics.

Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients.

M. Carella, B. Augello, L. Zelante, 2010, Molecular genetics and metabolism.

Twenty-four novel mutations identified in a cohort of 85 patients by direct sequencing of the SLC3A1 and SLC7A9 cystinuria genes.

G. Dedoussis, E. Pras, L. Zelante, 2008, Genetic testing.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M. Palacín, L. Zelante, V. Nunes, 2005, Journal of Medical Genetics.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

M. Gallucci, P. Gasparini, G. Rizzoni, 2002, Journal of the American Society of Nephrology : JASN.

Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

X. Estivill, M. Gallucci, P. Gasparini, 1996, Human Genetics.

Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria.

X. Estivill, V. Volpini, A. Zorzano, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes.

A. Savoia, L. Zelante, V. Guarnieri, 2002, Gene.

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.

P. Gasparini, A. Iolascon, J. Delaunay, 1997, American journal of human genetics.

Prenatal diagnosis of recurrence of cystic hygroma with normal chromosomes

B. Dallapiccola, L. Zelante, G. Perla, 1984, Prenatal diagnosis.

Low Prevalence of HNF1A Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital

M. Carella, R. Di Paola, L. Zelante, 2014, Diabetes Care.

Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3.

A. Cleton-Jansen, D. Callen, A. Savoia, 1999, Genomics.

The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer.

C. Mathew, N. Doggett, A. Cleton-Jansen, 1999, Genomics.

Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

X. Estivill, N. López-Bigas, P. Gasparini, 2001, Human mutation.

Patient with de novo 12p+ syndrome identified as dir dup (12) (p13) using subchromosomal painting libraries from somatic cell hybrids

M. Rocchi, L. Chiovato, B. Dallapiccola, 1994, Clinical genetics.

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

X. Estivill, N. López-Bigas, P. Gasparini, 2000 .

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Human Genetics.

A novel missense mutation in the Connexin 26 gene associated with autosomal recessive nonsyndromic sensorineural hearing loss in a consanguineous Tunisian family.

M. Carella, R. Santarelli, L. Zelante, 2009, International journal of pediatric otorhinolaryngology.

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis

M. Digilio, C. Izzi, G. Merla, 2010, European Journal of Human Genetics.

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

P. Gasparini, R. E. Bell, R. Hertzano, 2003, American journal of human genetics.

Characterization of endocrine features and genotype–phenotypes correlations in blepharophimosis–ptosis–epicanthus inversus syndrome type 1

F. Brancati, G. Novelli, F. Sangiuolo, 2016, Journal of Endocrinological Investigation.

Spectrum of PTCH mutations in Italian nevoid basal cell‐carcinoma syndrome patients: Identification of thirteen novel alleles

B. Dallapiccola, A. Savoia, A. Renieri, 2004, Human mutation.

Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations

A. Ciccodicola, T. Esposito, M. D'urso, 1999, European Journal of Human Genetics.

The genomic organization of the Fanconi anemia group A (FAA) gene.

C. Mathew, N. Doggett, R. Gibson, 1997, Genomics.

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

M. Carella, L. Garavelli, L. Zelante, 2013, American journal of medical genetics. Part A.

Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis.

A. Quattrone, L. Muscarella, L. Zelante, 2007, Biomolecular engineering.

Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant

A. Savoia, F. Della Ragione, R. Calzone, 2003, Human mutation.

Mutational screening of thrombopoietin receptor gene (c‐mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

A. Savoia, A. Iolascon, P. Strippoli, 1998, British journal of haematology.

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

L. Muscarella, L. Zelante, D. Catapano, 2010, Journal of biomedicine & biotechnology.

An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p.

S. Perrotta, A. Savoia, A. Iolascon, 1999, American journal of human genetics.

Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms

M. Carella, L. Zelante, O. Palumbo, 2015, American journal of medical genetics. Part A.

Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

X. Estivill, M. Gallucci, P. Gasparini, 1994, Nature Genetics.

Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT

X. Estivill, D. Torrents, G. Borsani, 1999, Nature Genetics.

Cystinuria type I: identification of eight new mutations in SLC3A1.

M. Gallucci, P. Gasparini, G. Rizzoni, 2001, Kidney international.

Positional cloning of the Fanconi anaemia group A gene

C. Mathew, D. Easton, G. Lennon, 1996, Nature Genetics.

Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

X. Estivill, E. Rappaport, P. Fortina, 1997, Human molecular genetics.

Tetraploidy (92,XXYY) in an acute nonlymphocytic leukemia (M1) patient following autologous bone marrow transplantation.

B. Dallapiccola, M. Carotenuto, L. Zelante, 1988, Cancer genetics and cytogenetics.

Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci.

L. Zelante, L. Buzzonetti, L. Bisceglia, 2009, Investigative ophthalmology & visual science.

Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus

L. Zelante, L. Bisceglia, R. Stallone, 2011, Molecular vision.

VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

L. Zelante, L. Bisceglia, C. Macaluso, 2005, Investigative ophthalmology & visual science.

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

G. Merla, L. Micale, C. Fusco, 2009, Genetic testing and molecular biomarkers.

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

E. Piozzi, L. Zelante, S. Penco, 2016, Journal of dermatological science.

Exclusion of three candidate genes as determinants of congenital dyserythropoietic anemia type II (CDA-II).

S. Perrotta, P. Gasparini, A. Iolascon, 1997, Blood.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

G. Camerino, M. Carella, A. Brusco, 2014, European Journal of Human Genetics.

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

D. Schlessinger, M. Rocchi, M. Uda, 2001, Nature Genetics.

Two mosaic‐YY males carrying asymmetric Y chromosomes

N. Archidiacono, M. Rocchi, P. Gasparini, 1997, Clinical genetics.

CFC syndrome: report on three additional cases.

G. Scarano, B. Dallapiccola, L. Zelante, 1989, American journal of medical genetics.

An excess of chromosome 1 breakpoints in male infertility

R. Stallings, C. Lundsteen, Z. Tümer, 2004, European Journal of Human Genetics.

Multiple spinal ganglioneuromas in a patient harboring a pathogenic NF1 mutation

M. Carella, L. Zelante, R. Sestini, 2010, Clinical genetics.

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

U Magrini, R. Ravazzolo, P. Noris, 2000, Nature genetics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

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

Connexin-26 mutations in sporadic and inherited sensorineural deafness

X. Estivill, E. Rappaport, P. Fortina, 1998, The Lancet.

GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene.

J. Rommens, P. Gasparini, M. Carella, 1998, Biochemical and biophysical research communications.

Pathogenetic role of the deafness-related M34T mutation of Cx26.

Edoardo Arslan, Sergio Pantano, Valeria Piazza, 2006, Human molecular genetics.

Are MYO1C and MYO1F associated with hearing loss?

X. Estivill, P. Gasparini, M. Carella, 2009, Biochimica et biophysica acta.

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

X. Estivill, P. Gasparini, A. Savoia, 2004, American journal of human genetics.

Goldenhar complex: a further case with uncommon associated anomalies.

P. Gasparini, R. Gorlin, A. Castriota Scanderbeg, 1997, American journal of medical genetics.

Pathologic features in two siblings with the Pena-Shokeir I syndrome

B. Dallapiccola, M. Bisceglia, L. Zelante, 1987, European Journal of Pediatrics.

Assignment of the gene responsible for cystinuria (rBAT) and of markers D2S119 and D2S177 to 2p16 by fluorescence in situ hybridization

X. Estivill, P. Gasparini, M. Nadal, 1995, Human Genetics.

A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea.

L. Zelante, A. Notarangelo, A. Croce, 2002, Annales de genetique.

Identification of two novel mutations and of a novel critical region in the KRIT1 gene

A. Quattrone, L. Muscarella, L. Zelante, 2006, Neurogenetics.

Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Bo Yuan, A. de la Chapelle, E. Sankila, 2001, American journal of human genetics.

Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

M. Fichera, C. Romano, M. Rocchi, 2007, Journal of Medical Genetics.

Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

G. Merla, A. Secinaro, G. Andria, 2014, BMC Medical Genetics.

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

V. Malhotra, G. Beznoussenko, L. Zelante, 2012, Science.

Linkage of DFNB1 to Non-Syndromic Neurosensory Autosomal-Recessive Deafness in Mediterranean Families

X. Estivill, P. Fortina, S. Surrey, 1997, European journal of human genetics : EJHG.

Linkage analysis of Fanconi anaemia in Italy and mapping of the complementation group A gene

B. Dallapiccola, A. Savoia, H. Joenje, 1996, Human Genetics.

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

M. Carella, L. Zelante, O. Palumbo, 2013, Gene.

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

X. Estivill, E. Di Iorio, P. Gasparini, 2001, American journal of human genetics.

High carrier frequency of the 35delG deafness mutation in European populations

X. Estivill, A. Metspalu, P. Fortina, 2000, European Journal of Human Genetics.

VHL Gene Alterations in Italian Patients with Isolated Renal Cell Carcinomas

L. Gesualdo, M. Gigante, M. Carella, 2013, The International journal of biological markers.

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma

G. Merla, L. Micale, B. Augello, 2007, Journal of Human Genetics.

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

R Pfundt, L Colleaux, N. de Leeuw, 2011, Journal of Medical Genetics.

Molecular dissection of the VHL gene in solitary capillary hemangioblastoma of the central nervous system.

M. Bisceglia, L. Muscarella, V. Fazio, 2014, Journal of neuropathology and experimental neurology.

Baller-Gerold syndrome: case report and clinical and radiological review.

B. Dallapiccola, R. Mingarelli, L. Zelante, 1992, American journal of medical genetics.

Cord blood in vitro expanded CD41+ cells: identification of novel components of megakaryocytopoiesis

S. Volinia, A. Balduini, A. Savoia, 2006, Journal of thrombosis and haemostasis : JTH.

Establishment and genetic characterization of ANGM-CSS, a novel, immortal cell line derived from a human glioblastoma multiforme.

A. Affuso, M. Carella, L. Muscarella, 2014, International journal of oncology.

Clinical and Molecular Characterization of Patients with Distal I I q Deletions

G. Evans, J. Graham, J. Fryns, 2007 .

Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients

A. Savoia, L. Zelante, P. Musto, 2004, Human Genetics.

Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism

Alessandro Quattrone, Carmela Bravaccio, Daniel Rabinowitz, 2004, Biological Psychiatry.

A novel deletion in 2q24.1q24.2 in a girl with mental retardation and generalized hypotonia: a case report

M. Carella, L. Zelante, O. Palumbo, 2012, Molecular Cytogenetics.

Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.

A. Savoia, P. Strippoli, H. Joenje, 1997, American journal of human genetics.

TBC1D7 Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

J. Chrast, A. Reymond, I. Xenarios, 2014, Human mutation.

Acrodysplasia, severe ossification abnormalities with short stature, and fibular hypoplasia.

P. Gasparini, A. Castriota-Scanderbeg, L. Zelante, 1999, American journal of medical genetics.

Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.

M. Carella, L. Zelante, E. Marciano, 2005, Biochemical and biophysical research communications.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

S. Lalani, L. Servais, F. Brancati, 2010, European Journal of Human Genetics.

Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families.

L. Zelante, C. Lo Nigro, L. Perroni, 1996, American journal of medical genetics.

Phenotypic variability in the Nager syndrome. Report of 4 unrelated patients: A collaborative study

B. Dallapiccola, L. Fabris, L. Zelante, 1988 .

Detection of dystrophin deletion carriers using FISH analysis

P. Gasparini, L. Zelante, L. Bisceglia, 1997, Clinical genetics.

Genomic and Genetic Disorders Biobank

B. Mandriani, G. Merla, L. Micale, 2015 .

Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis).

S. Perrotta, P. Gasparini, M. Carella, 1999, Blood.

A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23.

P. Gasparini, A. Kitzis, D. Bonneau, 1996, American journal of human genetics.

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

M. Copetti, V. Pazienza, M. Carella, 2013, PloS one.

Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.

X. Estivill, P. Gasparini, M. Palacín, 1999, Genomics.

Splice‐site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Human mutation.

Rituximab induces different but overlapping sets of genes in human B-lymphoma cell lines

L. Zelante, A. Biondi, G. Cazzaniga, 2005, Cancer Immunology, Immunotherapy.

A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

M. Carella, L. Zelante, E. Lapi, 2015, BMC Medical Genetics.

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

X. Estivill, N. López-Bigas, P. Gasparini, 1999, Nature Genetics.

The 18ph+ chromosome heteromorphism

B. Dallapiccola, L. Zelante, A. Notarangelo, 1994, Prenatal diagnosis.

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

M. Zeviani, Z. Shah, H. Jacobs, 2005, European Journal of Human Genetics.

Ring chromosome 21 in healthy persons: different consequencies in females and in males

B. Dallapiccola, L. Zelante, A. Notarangelo, 1986, Human Genetics.

Enhanced APOE2 transmission rates in families with autistic probands

D. Rabinowitz, L. Muscarella, M. Elia, 2004, Psychiatric genetics.

The molecular basis of cystinuria: the role of the rBAT gene

X. Estivill, D. Torrents, P. Gasparini, 1996, Amino Acids.

A new locus on 3p23–p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H

V. Petruzzella, M. Copetti, F. Santorelli, 2010, European Journal of Human Genetics.

Clinical andMolecular Characterization ofPatients withDistal IIq Deletions

J. Fryns, L. Zelante, C. Cunniff, 1995 .

A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome

L. Zelante, U. Froster, S. Strenge, 2006, American journal of medical genetics. Part A.

Limb-pelvis hypoplasia/aplasia: a discrete entity in the fibuloulnar developmental field complex.

P. Gasparini, M. Genuardi, L. Zelante, 1997, American journal of medical genetics.

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.

P. Gasparini, N. Orzalesi, A. Angius, 2000, Archives of ophthalmology.

VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

G. Merla, L. Micale, B. Augello, 2010, Journal of biomedicine & biotechnology.

Molecular Detection of Neuron-Specific ELAV-Like-Positive Cells in the Peripheral Blood of Patients with Small-Cell Lung Cancer

M. Copetti, M. Carella, L. Muscarella, 2008, Cellular oncology : the official journal of the International Society for Cellular Oncology.

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

M. Digilio, A. Giannotti, B. Dallapiccola, 1992, Annales de genetique.

Development of RNA‐SSCP protocols for the identification and screening of CFTR mutations: Identification of two new mutations

P. Gasparini, L. Zelante, L. Bisceglia, 1994, Human mutation.

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

M. Carella, L. Zelante, R. Fischetto, 2015, Molecular Cytogenetics.

CASR gene activating mutations in two families with autosomal dominant hypocalcemia.

M. Copetti, V. Pazienza, G. Benegiamo, 2012, Molecular genetics and metabolism.

Homocysteine metabolism in families from southern Italy with neural tube defects: role of genetic and nutritional determinants

M. Margaglione, E. Grandone, D. Paladini, 2006, Prenatal diagnosis.

Umbilical cord pseudocyst in Trisomy 13

B. Dallapiccola, L. Zelante, 1989, Prenatal diagnosis.

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.

M. Ciavarella, B. Pasini, M. Bengala, 2013, Gene.

8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature.

Orazio Palumbo, Massimo Carella, M. Carella, 2013, Gene.

Linkage analysis in two large Italian pedigrees affected with nail patella syndrome

P. Gasparini, M. Carella, L. Zelante, 1998, European Journal of Human Genetics.

Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay

M. Carella, L. Zelante, O. Palumbo, 2015, American journal of medical genetics. Part A.

Gene symbol: SLC3A1. Disease: cystinuria.

M. Palacín, L. Zelante, V. Nunes, 2005, Human Genetics.

Multiple intracranial aneurysms in a patient with Seckel syndrome

L. Zelante, V. D'angelo, A. Ceddia, 1998, Child's Nervous System.

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects.

L. Zelante, M. R. Piemontese, S. Calvano, 2003, Annales de genetique.

Case report Title : Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL 2 gene

G. Merla, A. Secinaro, G. Andria, 2013 .

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.

Role of interferon-γ gene polymorphisms in susceptibility to IgA nephropathy: a family-based association study

K. Zerres, F. Scolari, A. Amoroso, 2006, European Journal of Human Genetics.

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

Paolo Gasparini, Roberto Bruzzone, E. Di Iorio, 2002, Biochemical and biophysical research communications.

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort

E. Genovese, M. Carella, R. Santarelli, 2009, International journal of audiology.

Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: Their incidence and clinical features of defined genotypes

P. Pignatti, P. Gasparini, C. Bombieri, 1993, Human mutation.

Analysis of 31 CFTR mutations by polymerase chain reaction/oligonucleotide ligation assay in a pilot screening of 4476 newborns for cystic fibrosis

E. Arbustini, E. Rappaport, P. Fortina, 1999, Journal of Medical Screening.

Abnormal mRNA splicing resulting from consensus sequence splicing mutations of ATP7B

M. Tzetis, E. Kanavakis, G. Loudianos, 2002, Human mutation.

A novel mutation in the mitochondrial tRNAVal gene associated with a complex neurological presentation

V. Tiranti, M. Zeviani, P. Gasparini, 1998, Annals of neurology.

Ring chromosome 14 syndrome. Report of two cases, including extended evaluation of a previously reported patient and review.

F. Torricelli, B. Dallapiccola, R. Mingarelli, 1991, Annales de genetique.

Stability and functional effectiveness of phosphorothioate modified duplex DNA and synthetic 'mini-genes'.

D. Seripa, P. Gasparini, L. Zelante, 1995, Nucleic acids research.

A YAC Contig Spanning the Blepharophimosis-Ptosis-Epicanthus inversus Syndrome and Propionic Acidemia Loci

J. Rommens, P. Gasparini, A. Cao, 1997, European journal of human genetics : EJHG.

Indirect CFTR mutation identification by PCR/OLA anomalous electropherograms.

L. Zelante, L. Bisceglia, M. Granatiero, 2005, Genetic testing.

Identification of three novel mutations in the PIG-A gene

A. Savoia, L. Zelante, P. Musto, 1996 .

Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

P. Gasparini, L. Zelante, A. Croce, 1998, Journal of medical genetics.

Acromegaloid facial appearance (AFA) syndrome: report of a second family.

B. Dallapiccola, R. Mingarelli, L. Zelante, 1992, Journal of medical genetics.

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

R. Ravazzolo, P. Gasparini, M. Carella, 1999, International journal of molecular medicine.

Clinical and molecular characterization of patients with distal 11q deletions.

G. Evans, J. Graham, O. Jones, 1995, American journal of human genetics.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Andrew D. Johnson, Thomas W. Mühleisen, M. Nalls, 2014, Nature Genetics.

Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions.

N. Doggett, A. Savoia, L. Zelante, 1998, Genomics.

New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

M. Palacín, L. Zelante, V. Nunes, 2005, Journal of Medical Genetics.

Myocylin Gln 368 stop Mutation and Advanced Age as Risk Factors for Late-Onset Primary Open-Angle Glaucoma

P. Gasparini, N. Orzalesi, A. Angius, 2000 .

Mutations oftheFanconi Anemia GroupA Gene(FAA) inItalian Patients

P. Strippoli, L. Zelante, G. Bagnara, 1997 .

Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated Hereditary Stomatocytosis (Hereditary Xerocytosis)

S. Perrotta, P. Gasparini, M. Carella, 1999 .

Hereditary Stomatocytosis (Hereditary Xerocytosis) Familial Pseudohyperkalemia Maps to the Same Locus as Dehydrated

S. Perrotta, M. Carella, A. Iolascon, 2013 .

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

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

Shprintzen–Goldberg omphalocele syndrome: A new patient with an expanded phenotype

L. Zelante, M. Sacco, S. Calvano, 2006, American journal of medical genetics. Part A.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

The IgA nephropathy Biobank. An important starting point for the genetic dissection of a complex trait

K. Zerres, F. Scolari, A. Amoroso, 2005, BMC nephrology.

Clinical and molecular characterization of a de novo 19p13.3 microdeletion

M. Carella, L. Zelante, O. Palumbo, 2016, Molecular Cytogenetics.

3p14.1 de novo microdeletion involving the FOXP1 gene in an adult patient with autism, severe speech delay and deficit of motor coordination.

M. Carella, L. Zelante, O. Palumbo, 2013, Gene.

A new complex polymorphic repeat close to the HLA-A and HLA-E loci

P. Gasparini, L. Zelante, C. Camaschella, 1994, Human Genetics.

The Williams syndrome: an Italian collaborative study.

G. Scarano, O. Gabrielli, G. Neri, 1996, Minerva pediatrica.

METHODS Identification and Screening of C F r n Identification of Two New Mutations

L. Zelante, L. Bisceglia, A. Grifa, 2005 .

Fibrosis Patients From North Eastern Italy: Their Incidence and Clinical Features of Defined G e m

C. Bombieri, L. Zelante, E. Nicolis, 2005 .