B. Grammatico

发表

Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.

L. Flagiello, E. Vingolo, M. Pannarale, 1996, Ophthalmology.

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

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

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement.

L. Bernardini, I. Bottillo, F. Cardona, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

An Additional Patient With 3q27.3 Microdeletion Syndrome

I. Bottillo, M. Castori, S. Morlino, 2015, Journal of child neurology.

Discordant cfDNA‐NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman

I. Bottillo, P. Grammatico, L. Laino, 2022, Prenatal diagnosis.

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

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

Granulomatous slack skin: cytogenetic and molecular analyses.

L. Varesco, P. Grammatico, B. Grammatico, 1994, Cancer genetics and cytogenetics.

CDKN2A novel mutation in a patient from a melanoma-prone family

P. Grammatico, B. Grammatico, C. Catricalà, 2001, Melanoma research.

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

A deletion 3' to the PAX6 gene in familial aniridia cases.

G. Damante, D. Fabbro, P. Grammatico, 2007, Molecular vision.

Analysis of the neurofibromatosis type 2 gene in different human tumors of neuroectodermal origin

F. Vitelli, P. Radice, P. Grammatico, 1996, Human Genetics.

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.

I. Bottillo, M. Castori, P. Grammatico, 2013, BMC Research Notes.

Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype

P. Grammatico, E. Buffone, B. Grammatico, 2003, American journal of medical genetics. Part A.

Jejunal atresia and anterior chamber anomalies: Further delineation of the Strømme syndrome.

M. Castori, P. Grammatico, L. Laino, 2010, European journal of medical genetics.

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

A. Ciccodicola, M. D'urso, M. Mangino, 1999, European Journal of Human Genetics.

Autosomal-dominant Retinitis Pigrnentosa Associated with an Arg-135-Trp Point Mutation of the Rhodopsin Gene

L. Flagiello, E. Vingolo, M. Pannarale, 1996 .

Autosomal ... dominant Retinitis Pigmentosa Associated with an

L. Flagiello, E. Vingolo, B. Grammatico, 1996 .

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

B. Grammatico, G. del Porto, A. Gal, 2009, Acta ophthalmologica Scandinavica. Supplement.

Identification of novel RP2 mutations in a subset of X‐linked retinitis pigmentosa families and prediction of new domains

A. Ciccodicola, M. D'urso, M. Mangino, 2001, Human mutation.

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.