L. Pezzani

发表

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Lara E. Sucheston-Campbell, 2017, Nature Genetics.

Syndromic obesity: clinical implications of a correct diagnosis

G. Milan, D. Milani, S. Esposito, 2014, Italian Journal of Pediatrics.

HOXA genes cluster: clinical implications of the smallest deletion

D. Milani, S. Esposito, L. Pezzani, 2015, Italian Journal of Pediatrics.

Aortic dilation in Sotos syndrome: An underestimated feature?

A. Colli, A. Selicorni, D. Milani, 2020, American journal of medical genetics. Part A.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

D. Milani, C. Gervasini, S. Esposito, 2015, Italian Journal of Pediatrics.

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases

F. Mosca, F. Lalatta, M. Bedeschi, 2017, BMC Medical Genetics.

Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

Matteo Bellini, A. Pilotta, D. Milani, 2022, Genes.

Intellectual Disability: When the Hypertrichosis Is a Clue

D. Milani, L. Pezzani, G. Tadini, 2015, Journal of Pediatric Genetics.

Epidemiology of Neurofibromatosis Type 1

D. Milani, L. Pezzani, 2020 .

A Novel Intragenic Deletion in Ophn1 in A Boy with Developmental Delay, Strabismus and Cerebellar Hypoplasia

P. Chiurazzi, D. Milani, M. Viri, 2015 .

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

D. Milani, L. Riboni, M. Chetta, 2018, Clinical genetics.

Complex malformative syndromes with distinctive cutaneous signs

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type

M. Venturini, P. Calzavara-Pinton, M. Ritelli, 2013, American journal of medical genetics. Part A.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

L. Galletti, L. Pezzani, M. Iascone, 2020, Molecular genetics & genomic medicine.

Ectodermal dysplasias and related disorders

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

Cord blood platelet gel treatment of dystrophic recessive epidermolysis bullosa

P. Rebulla, F. Mosca, S. Esposito, 2015, BMJ Case Reports.

Epidermal nevi and epidermal nevus syndromes

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

X‐linked reticulate pigmentary disorder with systemic manifestations: A new family and review of the literature

M. Colombi, L. Pezzani, G. Tadini, 2013, American journal of medical genetics. Part A.

SBIDDS Syndrome: A New Spoke of the Epigenetic Machinery Wheel

D. Milani, L. Pezzani, M. Iascone, 2022, Molecular Syndromology.

Other disorders of keratinization

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

Is it time to change the neurofibromatosis 1 diagnostic criteria?

D. Milani, S. Esposito, C. Sabatini, 2014, European journal of internal medicine.

Is cutis verticis Gyrata‐Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases

G. Scuvera, D. Milani, S. Esposito, 2017, American journal of medical genetics. Part A.

Disorders of connective tissue

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

Fatty tissue anomalies

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

Beckwith – wiedemann and iMAGe syndromes : two very different diseases caused by mutations on the same gene

D. Milani, M. Miozzo, L. Pezzani, 2014 .

Preliminary evaluation of cord blood platelet gel for the treatment of skin lesions in children with dystrophic epidermolysis bullosa.

M. Marconi, P. Rebulla, S. Esposito, 2015, Blood transfusion = Trasfusione del sangue.

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

Lara E Sucheston-Campbell, Simon G. Coetzee, Dennis J. Hazelett, 2017, Nature Genetics.

Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Matteo Bellini, A. Selicorni, M. Bedeschi, 2021, Journal of cardiovascular development and disease.

Atypical presentation of pediatric BRAF RASopathy with acute encephalopathy

L. Caffi, L. Pezzani, M. Iascone, 2018, American journal of medical genetics. Part A.

Ectodermal dysplasias: the p63 tail.

L. Pezzani, P. Nannini, G. Tadini, 2013, Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia.

A novel non-sense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.

L. Pezzani, F. dall’Olio, M. Iascone, 2020, Glycobiology.

Identification of two novel ATP6V0A2 mutations in an infant with cutis laxa by exome sequencing.

M. Venturini, P. Calzavara-Pinton, M. Ritelli, 2014, Journal of dermatological science.

Nevoid follicular mucinosis: a new type of hair follicle nevus

L. Pezzani, F. Rongioletti, G. Tadini, 2013, Journal of cutaneous pathology.

7p22.1 microduplication syndrome: Refinement of the critical region.

D. Milani, S. Esposito, L. Pezzani, 2017, European journal of medical genetics.

The Application of Clinical Genetics Dovepress Beckwith–wiedemann and Image Syndromes: Two Very Different Diseases Caused by Mutations on the Same Gene

D. Milani, M. Miozzo, L. Pezzani, 2022 .

Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.

D. Milani, M. Miozzo, L. Pezzani, 2014 .

Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study.

Matteo Bellini, A. Selicorni, D. Milani, 2023, Molecular genetics & genomic medicine.

Poikilodermas and aging syndromes

L. Pezzani, G. Tadini, C. Gelmetti, 2015 .

CATSHL syndrome, a new family and phenotypic expansion

C. Cesaretti, D. Milani, L. Pezzani, 2023, Clinical genetics.