M. Digilio

发表

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

A. Giannotti, B. Dallapiccola, B. Marino, 2003, Clinical genetics.

Overt cleft palate phenotype and TBX1 genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

Mark J. Bowser, Jonathan H. Chung, E. Zackai, 2012, American journal of medical genetics. Part A.

Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype.

B. Marino, B. Marino, M. Digilio, 2000, Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology.

Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality

R. Capolino, C. Surace, M. Digilio, 2008, Cytogenetic and Genome Research.

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location

R. Capolino, C. Surace, M. Digilio, 2009, Clinical genetics.

Three patients with oculo‐auriculo‐vertebral spectrum and microdeletion 22q11.2

E. Zackai, B. Dallapiccola, C. Heike, 2009, American journal of medical genetics. Part A.

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome)

B. Dallapiccola, R. Capolino, B. Marino, 2005, Images in paediatric cardiology.

Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries

B. Dallapiccola, R. Capolino, B. Marino, 2005, American journal of medical genetics. Part A.

Deletion 22q11 in patients with interrupted aortic arch.

B. Marino, M. Digilio, A. Giannotti, 1999, The American journal of cardiology.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 1 22q11.2DS and sporadic congenital heart disease 2

M. Owen, C. Marshall, Zhengdong D. Zhang, 2022 .

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.

B. Dallapiccola, A. Pizzuti, G. Limongelli, 2004, Birth defects research. Part A, Clinical and molecular teratology.

Inlet ventricular septal defect is not a partial atrioventricular septal defect.

B. Marino, M. Digilio, 1999, American journal of medical genetics.

Clinical manifestations of Noonan syndrome

B. Marino, M. Digilio, 2001, Images in paediatric cardiology.

New insights in genetics of congenital heart defects

M. Digilio, 2002, Images in paediatric cardiology.

Congenital heart defects in the recurrent 2q13 deletion syndrome.

B. Marino, B. Dallapiccola, I. Bottillo, 2021, European journal of medical genetics.

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome

B. Dallapiccola, B. Marino, M. Digilio, 2008, American Journal of Medical Genetics. Part A.

Health Supervision for Children With Down Syndrome

M. Digilio, B. Marino, R. D. Di Donato, 1994, Pediatric Clinical Practice Guidelines & Policies.

Autosomal dominant transmission of nonsyndromic diastasis recti and weakness of the linea alba

B. Dallapiccola, R. Capolino, M. Digilio, 2008, American journal of medical genetics. Part A.

Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot

G. Usala, M. Uda, B. Marino, 2011, Clinical genetics.

Hepatic fibrosis in Kabuki syndrome

M. Digilio, R. Capolino, V. Nobili, 2004, American journal of medical genetics. Part A.

Congenital diaphragmatic hernia in CHARGE syndrome

M. Digilio, P. Bagolan, G. Casaccia, 2008, Pediatric Surgery International.

Genetic dosage compensation in a family with velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome

B. Morrow, M. Digilio, B. Dallapiccola, 2011, American journal of medical genetics. Part A.

Pigmented villonodular synovitis in a patient with Noonan syndrome and SOS1 gene mutation

M. Digilio, A. Ugazio, B. Dallapiccola, 2008, American journal of medical genetics. Part A.

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle

B. Marino, B. Dallapiccola, F. Consoli, 2011, Clinical genetics.

Syndromic non‐compaction of the left ventricle: associated chromosomal anomalies

B. Marino, M. Digilio, B. Dallapiccola, 2013, Clinical genetics.

HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication

B. Dallapiccola, L. Bernardini, I. Bottillo, 2009, Clinical genetics.

Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: A specific cardiac phenotype associated with deletion 18q syndrome

B. Dallapiccola, B. Marino, U. Sauer, 2005, American journal of medical genetics. Part A.

Heterotaxy with left atrial isomerism in a patient with deletion 18p.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, American journal of medical genetics.

Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2

B. Dallapiccola, R. Capolino, E. Conti, 2005, American journal of medical genetics. Part A.

Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non‐syndromic atrioventricular canal defect

M. Digilio, B. Dallapiccola, A. Pizzuti, 2006, American journal of medical genetics. Part A.

Hypoplastic left heart syndrome and 21q22.3 deletion

B. Dallapiccola, R. Capolino, B. Marino, 2015, American journal of medical genetics. Part A.

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

B. Dallapiccola, V. Caputo, L. Bernardini, 2004, Clinical genetics.

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

M. Mangino, A. Giannotti, B. Dallapiccola, 2002, Human mutation.

Familial recurrence of anomalous origin of right pulmonary artery from the aorta

G. Limongelli, B. Marino, P. Vergara, 2006, American journal of medical genetics. Part A.

Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11.

B. Marino, A. Giannotti, B. Dallapiccola, 1999, Genetic counseling.

Genetics of congenital heart diseases in syndromic and non-syndromic patients: new advances and clinical implications.

M. Digilio, B. Dallapiccola, B. Marino, 2007, Journal of cardiovascular medicine.

Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.

J. J. Shepherd, D. Sillence, L. Mestroni, 1994, Journal of medical genetics.

Cardiovascular malformations in Adams–Oliver syndrome

B. Dallapiccola, B. Marino, M. Digilio, 2015, American journal of medical genetics. Part A.

Turner's syndrome with atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1991, Pediatric Cardiology.

Biased T‐cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

B. Marino, G. Novelli, F. Amati, 2003, Clinical and experimental immunology.

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

M. Owen, C. Marshall, Zhengdong D. Zhang, 2023, NPJ genomic medicine.

Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: A possible link to the Adams–Oliver syndrome

B. Dallapiccola, B. Marino, M. Digilio, 2008, American journal of medical genetics. Part A.