S. Majore

发表

Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family

F. Zeri, P. Grammatico, I. Cosentino, 2016, Ophthalmic genetics.

Syndromic true hermaphroditism due to an R‐spondin1 (RSPO1) homozygous mutation

M. Mazzilli, Felipe Valentini, P. Grammatico, 2008, Human mutation.

Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major

M. Testi, M. Andreani, M. Troiano, 2009, Haematologica.

Association of segmental neurofibromatosis 1 and oculo-auriculo-vertebral spectrum in a 24-year-old female.

M. Castori, P. Grammatico, G. Zambruno, 2008, EJD. European journal of dermatology.

CDKN2A: the IVS2-105A/G intronic mutation found in an Italian patient affected by eight primary melanomas.

P. Grammatico, C. Catricalà, L. Eibenschutz, 2004, The Journal of investigative dermatology.

Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.

P. Grammatico, G. del Porto, S. Majore, 2003, Journal of pediatric surgery.

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

F. Baldinotti, A. Fogli, P. Simi, 2008, Journal of andrology.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

E. Bertini, A. D’Amico, F. Musumeci, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

CCR2 and CCR5 gene polymorphisms in children with recurrent respiratory infections.

G. Corbo, V. Romano-Spica, D. Arzani, 2001, Respiratory medicine.

Fontaine–Farriaux syndrome: A recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies

F. Torricelli, M. Castori, P. Grammatico, 2009, American journal of medical genetics. Part A.

Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload.

A. Cerrone, A. Tafuri, P. Grammatico, 2006, Haematologica.

Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload.

P. Grammatico, S. Majore, F. Binni, 2002, Haematologica.

A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

C. Férec, P. Grammatico, E. Létocart, 2009, British journal of haematology.

Allelic distribution of CCR5 and CCR2 genes in an Italian population sample.

V. Romano-Spica, M. Dean, D. Arzani, 2000, AIDS research and human retroviruses.

P. Grammatico, S. Majore, F. C. Radio, 2014, Blood cells, molecules & diseases.

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation

A. Novelli, P. Grammatico, S. Majore, 2021, Journal of Molecular Neuroscience.

Natural history of TFR2‐related hereditary hemochromatosis in a 47‐yr‐old Italian patient

M. Castori, P. Grammatico, S. Majore, 2009, European journal of haematology.

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

I. Bottillo, P. Grammatico, L. Laino, 2014, Endocrine connections.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

CDKN2A/CDK4 molecular study on 155 Italian subjects with familial and/or primary multiple melanoma

P. Grammatico, C. Catricalà, L. Eibenschutz, 2008, Pigment cell & melanoma research.

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.

ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease.

M. Picardo, P. Grammatico, S. Majore, 2005, The Journal of investigative dermatology.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data

F. Brancati, G. Novelli, F. Sangiuolo, 2019, Genes.

Novel and recurrent p14ARF mutations in Italian familial melanoma

M. Castori, P. Grammatico, C. Catricalà, 2010, Clinical genetics.

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

Biallelic STAB1 pathogenic variants cause hereditary hyperferritinemia

S. Majore, A. Piperno, E. Monfrini, 2022, medRxiv.

A novel patient with White–Sutton syndrome refines the mutational and clinical repertoire of the POGZ‐related phenotype and suggests further observations

N. Fleischer, E. Agolini, A. Novelli, 2020, American journal of medical genetics. Part A.

Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.

F. Polticelli, S. Di Bartolomeo, P. Grammatico, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Type 3 hereditary hemochromatosis in a patient from sub-Saharan Africa: is there a link between African iron overload and TFR2 dysfunction?

P. Grammatico, I. Cosentino, S. Majore, 2013, Blood cells, molecules & diseases.

Schimke immunoosseous dysplasia: defining skeletal features

C. Boerkoel, D. Bonneau, S. Smithson, 2009, European Journal of Pediatrics.

Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia

M. Castori, P. Grammatico, S. Majore, 2009, American journal of medical genetics. Part A.

Vaginoplasty for Disorders of Sex Development

P. Grammatico, S. Majore, N. Guarino, 2013, Front. Endocrinol..

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

I. Bottillo, A. Paiardini, P. Grammatico, 2020, International journal of molecular sciences.

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation

P. Grammatico, L. Laino, S. Majore, 2014, American journal of medical genetics. Part A.

Human RSPO1/R-spondin1 Is Expressed during Early Ovary Development and Augments β-Catenin Signaling

D. Gerrelli, M. Mazzilli, P. Grammatico, 2011, PloS one.

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

A. Battaglia, M. Digilio, B. Dallapiccola, 2005, American journal of human genetics.

Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication

N. Fleischer, L. Bernardini, E. Agolini, 2020, Neurological Sciences.

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.

AXIN2 germline mutations are rare in familial melanoma

M. Castori, P. Grammatico, G. Zambruno, 2011, Genes, chromosomes & cancer.

Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants.

I. Bottillo, P. Grammatico, F. Signore, 2022, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Helsmoortel-Van der Aa Syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement.

Antonio Novelli, Emanuele Agolini, Maria Cristina Digilio, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies.

M. Castori, P. Grammatico, B. Grammatico, 2009, European journal of medical genetics.

I. Bottillo, P. Grammatico, B. Grammatico, 2022, European Journal of Human Genetics.

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype

E. Agolini, A. Novelli, P. Grammatico, 2020, Clinical genetics.

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

V. Caputo, A. Pizzuti, I. Bottillo, 2016, Gene.

Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres

M. Rinelli, E. Agolini, A. Novelli, 2018, Annals of Hematology.

Germline NUP98 Variants in Two Siblings with a Rothmund–Thomson-Like Spectrum: Protein Functional Changes Predicted by Molecular Modeling

E. Colombo, P. Grammatico, A. Orro, 2023, International journal of molecular sciences.

Clinical presentation and molecular characterization of a novel patient with variant POC1A‐related syndrome

L. Micale, E. Agolini, A. Novelli, 2020, Clinical genetics.

HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis

P. Grammatico, S. Majore, A. De Santis, 2004, Human mutation.

Unexplained isolated hyperferritinemia without iron overload

C. Arosio, S. Levi, S. Majore, 2017, American journal of hematology.

Four novel MSH2 and MLH1 frameshift mutations and occurrence of a breast cancer phenocopy in hereditary nonpolyposis colorectal cancer

A. Viel, M. Genuardi, O. Caluseriu, 2001, Human mutation.

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

F. Torricelli, P. Grammatico, D. Giannarelli, 2015, Blood cells, molecules & diseases.

Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers–Danlos Syndrome Classical-like Type 2?

I. Bottillo, P. Grammatico, L. Laino, 2022, Genes.

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

L. Micale, B. Pasini, C. Fusco, 2023, Human Genetics.

A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1.

S. Majore, A. Piperno, M. Hollmén, 2023, American journal of human genetics.

Screening of mutations in the CFTR gene in 1195 couples entering assisted reproduction technique programs

Bruno Dallapiccola, Elisa Calzolari, Alessandra Ferlini, 2005, European Journal of Human Genetics.

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

N. Fleischer, P. Grammatico, A. Ferraris, 2019, Journal of Human Genetics.

Ehlers–Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA

E. Giacopuzzi, M. Castori, S. Morlino, 2017, American journal of medical genetics. Part A.

A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review.

E. Bertini, A. D’Amico, F. Musumeci, 2016, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene

I. Bottillo, E. Agolini, A. Novelli, 2019, Psychiatric genetics.

The controversial role of variants in HAMP , BMP 2 , FTL and SLC 40 A 1 genes

F. Torricelli, P. Grammatico, D. Giannarelli, 2015 .

Identification of a novel duplication in the APC gene using multiple ligation probe amplification in a patient with familial adenomatous polyposis.

P. Grammatico, S. Majore, F. Megiorni, 2008, Cancer genetics and cytogenetics.

Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies

E. Bertini, F. Brancati, E. Valente, 2010, Human mutation.

Do patients with hypospadias and cryptorchidism share a common phenotype? Case-control study of an Italian paediatric population.

P. Grammatico, E. Bruner, S. Majore, 2007, Journal of pediatric urology.