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

Ballardini Elisa
Bertoncelli Natascia
Borghesi Alessandro
Corsello Giovanni
Filannino Antonia
Gabaldo Mona
Garbetta Gisella
Grassi Federica
Le Pera Luca
Locatelli Chiara
Lombardo Ilaria
Lugli Licia
Mammoliti Palma Maria Angela
Mancuso Domenica
Memo Luigi
Rossi Cecilia
Serra Gregorio
Travan Laura
Guglielmi Mariangela
Muraca Maria Carmela
Vancini Alessandra
Trivellin Valeria

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

Contatti

Genetica Clinica Neonatale

Luigi Memo

Organigramma

Soci

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

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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