Gruppo di studio

Genetica Clinica Neonatale

Luigi Memo

Organigramma

Segretario
Luigi Memo (Venezia)
luigi.memo55@gmail.com

Past Segretario
Alessandra Vancini (Bologna)
alessandra.vancini@ausl.bologna.it

Comitato di Coordinamento
Alessandro Borghesi (Pavia)
A.Borghesi@smatteo.pv.it
Marilù Capelli (Rimini)
marilu.capelli@auslromagna.it
Antonia Filannino (Bari)
antoniafilannino@hotmail.it
Gregorio Serra (Palermo)
gregorio.serra@unipa.it
Laura Travan (Trieste)
laura.travan@burlo.trieste.it

Consiglieri Cooptati
Licia Lugli (Modena)
licia.lugli@virgilio.it
Carla Morando (Vicenza)
carla.morando@aulss8.veneto.it

Soci

Alessandro Borghesi
Marilu’ Capelli
Beatrice Crippa
Andreea Iuliana Deak
Antonia Filannino
Lucia Maria Gambini
Mariangela Guglielmi
Silvia Lanciotti
Luca Le Pera
Ilaria Lombardo
Licia Lugli
Palma Maria Angela Mammoliti
Luigi Memo
Maria Carmela Muraca
Maria Podagrosi
Cecilia Rossi
Marco, Andrea, Nicola Saporito
Gregorio Serra
Laura Travan
Valeria Trivellin
Alessandra Vancini

Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD)

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Genotypes and phenotypes heterogeneity in PIK3CArelated overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

20,00 €

rinnova o diventa socio

gruppi di studio

Genetica Clinica Neonatale

Luigi Memo

Organigramma

Soci

Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD)

Lettera ai Soci 4/9/26

Programma Corso precongressuale GdS Genetica Clinica Neonatale SIN

Lettera ai Soci 18/6/26

Comunicato Stampa – Oltre la Diagnosi: un Approccio Multidisciplinare al Neonato con Malformazione Congenita

Oltre la diagnosi: un approccio multidisciplinare al neonato con malformazione congenita

Lettera ai Soci 9/4/26

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies

Focal facial dermal dysplasia type IV: a case series

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Genotypes and phenotypes heterogeneity in PIK3CArelated overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease

Syndromic games

Incontro congiunto sigu-sin

Lettera ai Soci 23/7/25

Lettera ai Soci 3/3/26

La Bioetica sul campo: una sfida per il neonatologo e il pediatra

KBG syndrome: report and follow-up on three unrelated patients observed at different ages

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Lettera ai soci

Riunione telematica del Comitato di Coordinamento 7/1/25

20,00 €

La SIN – Società Italiana di Neonatologia si propone di favorire e promuovere la ricerca, la didattica e l’assistenza nell’ambito della Neonatologia

Rinnova Quota SIN

Diventa Socio

Genetica Clinica Neonatale

Luigi Memo

Organigramma

Soci

Novel Compound Heterozygous Variants in TGM1 and CYP4F22 in Two Newborns with Non-Syndromic Epidermal Differentiation Disorders (TGM1-nEDD and CYP4F22-nEDD)

Lettera ai Soci 4/9/26

Programma Corso precongressuale GdS Genetica Clinica Neonatale SIN

Lettera ai Soci 18/6/26

Comunicato Stampa – Oltre la Diagnosi: un Approccio Multidisciplinare al Neonato con Malformazione Congenita

Oltre la diagnosi: un approccio multidisciplinare al neonato con malformazione congenita

Lettera ai Soci 9/4/26

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Interstitial 1q Deletion Syndrome: A New Patient with Congenital Diaphragmatic Hernia and Multiple Midline Anomalies

Focal facial dermal dysplasia type IV: a case series

Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

Genotypes and phenotypes heterogeneity in PIK3CArelated overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient with Neonatal-Onset Interstitial Lung Disease

Syndromic games

Incontro congiunto sigu-sin

Lettera ai Soci 23/7/25

Lettera ai Soci 3/3/26

La Bioetica sul campo: una sfida per il neonatologo e il pediatra

KBG syndrome: report and follow-up on three unrelated patients observed at different ages

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Lettera ai soci

Riunione telematica del Comitato di Coordinamento 7/1/25

20,00 €

La SIN – Società Italiana di Neonatologia si propone di favorire e promuovere la ricerca, la didattica e l’assistenza nell’ambito della Neonatologia

Rinnova Quota SIN

Diventa Socio

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