Cargando…

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500–1...

Descripción completa

Detalles Bibliográficos
Autores principales:	Corsello, Giovanni, Antona, Vincenzo, Serra, Gregorio, Zara, Federico, Giambrone, Clara, Lagalla, Luca, Piccione, Maria, Piro, Ettore
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885309/ https://www.ncbi.nlm.nih.gov/pubmed/29618358 http://dx.doi.org/10.1186/s13052-018-0483-z

Ejemplares similares

NF1 microdeletion syndrome: case report of two new patients
por: Serra, Gregorio, et al.
Publicado: (2019)

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report
por: Serra, Gregorio, et al.
Publicado: (2018)

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
por: Serra, Gregorio, et al.
Publicado: (2022)

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene
por: Serra, Gregorio, et al.
Publicado: (2022)

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles
por: Serra, Gregorio, et al.
Publicado: (2022)

Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
por: Serra, Gregorio, et al.
Publicado: (2022)

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder
por: Schierz, Ingrid Anne Mandy, et al.
Publicado: (2022)

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
por: Piro, Ettore, et al.
Publicado: (2020)

Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
por: Schierz, Ingrid Anne Mandy, et al.
Publicado: (2022)

The social role of pediatrics in the past and present times
por: Serra, Gregorio, et al.
Publicado: (2021)

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient
por: Piro, Ettore, et al.
Publicado: (2020)

Novel missense mutation of the TP63 gene in a newborn with Hay-Wells/Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome: clinical report and follow-up
por: Serra, Gregorio, et al.
Publicado: (2021)

New insights on partial trisomy 3q syndrome: de novo 3q27.1-q29 duplication in a newborn with pre and postnatal overgrowth and assisted reproductive conception
por: Serra, Gregorio, et al.
Publicado: (2023)

Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
por: Mercadante, Francesca, et al.
Publicado: (2022)

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome
por: Serra, Gregorio, et al.
Publicado: (2020)

Dyke-Davidoff-Masson syndrome: case report of fetal unilateral ventriculomegaly and hypoplastic left middle cerebral artery
por: Piro, Ettore, et al.
Publicado: (2013)

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene
por: Serra, Gregorio, et al.
Publicado: (2022)

Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital
por: Piro, Ettore, et al.
Publicado: (2020)

Recognizable neonatal clinical features of aplasia cutis congenita
por: Schierz, Ingrid Anne Mandy, et al.
Publicado: (2020)

Intrauterine growth restriction and congenital malformations: a retrospective epidemiological study
por: Puccio, Giuseppe, et al.
Publicado: (2013)

Intrauterine growth pattern and birthweight discordance in twin pregnancies: a retrospective study
por: Puccio, Giuseppe, et al.
Publicado: (2014)

Growth patterns and associated risk factors of congenital malformations in twins
por: Piro, Ettore, et al.
Publicado: (2020)

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report
por: Schierz, Ingrid Anne Mandy, et al.
Publicado: (2020)

Etiological heterogeneity and clinical variability in newborns with esophageal atresia
por: Piro, Ettore, et al.
Publicado: (2018)

Novel SCNN1A gene splicing-site mutation causing autosomal recessive pseudohypoaldosteronism type 1 (PHA1) in two Italian patients belonging to the same small town
por: Serra, Gregorio, et al.
Publicado: (2021)

Jacobsen syndrome and neonatal bleeding: report on two unrelated patients
por: Serra, Gregorio, et al.
Publicado: (2021)

Report and follow-up on two new patients with congenital mesoblastic nephroma
por: Serra, Gregorio, et al.
Publicado: (2023)

Perinatal and newborn care in a two years retrospective study in a first level peripheral hospital in Sicily (Italy)
por: Serra, Gregorio, et al.
Publicado: (2019)

Necrotizing enterocolitis in the preterm: newborns medical and nutritional Management in a Single-Center Study
por: Savarino, Giovanni, et al.
Publicado: (2021)

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?
por: La Placa, Simona, et al.
Publicado: (2013)

Clinical cardiac assessment in newborns with prenatally diagnosed intrathoracic masses
por: Schierz, Ingrid Anne Mandy, et al.
Publicado: (2018)

Congenital syphilis in a preterm newborn with gastrointestinal disorders and postnatal growth restriction
por: Serra, Gregorio, et al.
Publicado: (2022)

Intellectual disabilitiy in developmental age
por: Giuffrè, Mario, et al.
Publicado: (2015)

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study
por: Scala, Marcello, et al.
Publicado: (2021)

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency
por: Maggio, Maria Cristina, et al.
Publicado: (2019)

Molecular characterization of the Yp11.2 region deletion in the Chinese Han population
por: Pang, Qianqian, et al.
Publicado: (2021)

Antimicrobial therapy in neonatal intensive care unit
por: Tzialla, Chryssoula, et al.
Publicado: (2015)

Management of multiple pregnancy with an affected twin
por: Giuffrè, Mario, et al.
Publicado: (2015)

From Neonatal Intensive Care to Neurocritical Care: Is It Still a Mirage? The Sicilian Multicenter Project
por: Falsaperla, Raffaele, et al.
Publicado: (2021)

New insights in pediatrics in 2021: choices in allergy and immunology, critical care, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, neurology, nutrition, palliative care, respiratory tract illnesses and telemedicine
por: Caffarelli, Carlo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_uqejr68ntamf3rdh73oepo2fi3