A. Giannotti

发表

Clinical and cardiorespiratory assessment in children with Down syndrome without congenital heart disease.

E. Pastore, B. Marino, A. Calzolari, 2000, Archives of pediatrics & adolescent medicine.

Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia

M. Digilio, A. Giannotti, A. Federico, 2003, Human mutation.

Atypical deletions suggest five 22q11.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome

O. Gabrielli, M. Digilio, A. Giannotti, 1999, European Journal of Human Genetics.

Prevalence and Clinical Picture of Celiac Disease in Italian Down Syndrome Patients: A Multicenter Study

O. Gabrielli, A. Giannotti, G. Andria, 2001, Journal of pediatric gastroenterology and nutrition.

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.

Microdeletion 22q11 and oesophageal atresia

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Journal of medical genetics.

Complete Transposition of the Great Arteries: Patterns of Congenital Heart Disease in Familial Precurrence

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Circulation.

Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

A. Scabar, A. Giannotti, G. Mazzucco, 1996, Genes, chromosomes & cancer.

Maternally inherited deafness associated with a T1095C mutation in the mDNA

A. Giannotti, F. Santorelli, L. Vilarinho, 2001, European Journal of Human Genetics.

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Molecular and cellular probes.

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal.

B. Marino, M. Digilio, A. Giannotti, 1999, The Journal of pediatrics.

Congenital heart defects in Kabuki syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, American journal of medical genetics.

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects.

J. Korenberg, G. Gimelli, M. Digilio, 2000, Circulation.

Deletion of a 5cM Region at Chromosome 8 p 23 Is Associated With a Spectrum of Congenital Heart Defects

J. Korenberg, G. Gimelli, M. Digilio, 2000 .

SHOX mutations detected by FISH and direct sequencing in patients with short stature

G. Scarano, A. Giannotti, V. Gatta, 2003, Journal of medical genetics.

Glutathione metabolism and antioxidant enzymes in children with Down syndrome.

E. Bertini, M. Digilio, A. Giannotti, 2003, The Journal of pediatrics.

Coeliac disease in Williams syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Journal of medical genetics.

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

P. Pignatti, M. Digilio, A. Giannotti, 1994, Journal of medical genetics.

Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome

A. Giannotti, B. Dallapiccola, R. Mingarelli, 1993, Clinical genetics.

Postural anomaly of the head‐neck‐shoulder alignment in patients with deletion 22q11.2 (DiGeorge/velocardiofacial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, Clinical genetics.

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

J. Opitz, M. Digilio, A. Giannotti, 2003, Birth defects research. Part A, Clinical and molecular teratology.

Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

Joint dislocation and cerebral anomalies are consistently associated with oral‐facial‐digital syndrome type IV

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Clinical genetics.

Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot.

B. Marino, M. Digilio, A. Giannotti, 1996, The American journal of cardiology.

Noonan syndrome: Structural abnormalities of the mitral valve causing subaortic obstruction

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, European Journal of Pediatrics.

Noonan syndrome with cardiac left-sided obstructive lesions

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Human Genetics.

Genetic heterogeneity of isolated noncompaction of the left ventricular myocardium.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, American journal of medical genetics.

Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo‐cardio‐facial syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2003, American journal of medical genetics. Part A.

Anatomic patterns of conotruncal defects associated with deletion 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

Deletion 22q11 in patients with interrupted aortic arch.

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

22q11 deletions in isolated and syndromic patients with tetralogy of Fallot

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Truncus arteriosus and duplication 8q

A. Giannotti, B. Dallapiccola, B. Marino, 2003, American journal of medical genetics. Part A.

Deletion 8p syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Exercise Testing and 24-Hour Ambulatory Blood Pressure Monitoring in Children with Williams Syndrome

A. Calzolari, M. Digilio, A. Giannotti, 2001, Pediatric Cardiology.

Nonrandom association of atrioventricular canal and del (8p) syndrome.

B. Marino, M. Digilio, A. Giannotti, 1992, American journal of medical genetics.

Two novel mutations of the human Δ7-sterol reductase (DHCR7) gene in children with Smith–Lemli–Opitz syndrome

M. Digilio, A. Giannotti, F. Santorelli, 2002 .

Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.

R. Carrozzo, A. Giannotti, A. Tessa, 2000, American journal of medical genetics.

Noonan syndrome and aortic coarctation.

M. Digilio, A. Giannotti, B. Dallapiccola, 1998, American journal of medical genetics.

Partial atrioventricular canal with left-sided obstruction in patients with Noonan syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Pediatric Cardiology.

Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome).

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, British journal of audiology.

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

A. Giannotti, B. Dallapiccola, G. Novelli, 1995, Human Genetics.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

K. Jones, A. Giannotti, M. Campo, 1999, Human molecular genetics.

An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Journal of medical genetics.

The phenotype of partial dup(7q) reconsidered: a report of five new cases

A. Giannotti, B. Dallapiccola, L. Chessa, 1988, Clinical genetics.

Case Report: Two newborns with chromosome 4 imbalances: deletion 4q33 → q35 and ring r (4) (pterq35.2‐qter)

A. Giannotti, R. Mingarelli, M. R. Piemontese, 1997, Clinical genetics.

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri–Weill dyschondrosteosis

A. Giannotti, R. Mingarelli, R. Fischetto, 2000, Clinical genetics.

Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male

A. Giannotti, G. Rappold, R. Mingarelli, 1999, Journal of medical genetics.

Malignant Pancreatic Endocrine Tumor in a Child With Tuberous Sclerosis

R. Boldrini, C. Dominici, A. Giannotti, 2003, The American journal of surgical pathology.

Ellis‐van Creveld Syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p

M. Digilio, A. Giannotti, B. Dallapiccola, 2004, American journal of medical genetics. Part A.

Langer-Giedion syndrome. A patient without mental retardation and a large 8q23.2-q24.22 deletion.

M. Digilio, A. Giannotti, G. Tiberio, 1999, Minerva pediatrica.

A live infant with trisomy 14 mosaicism and nuclear abnormalities of the neutrophils.

A. Giannotti, B. Dallapiccola, B. Porfirio, 1984, Journal of medical genetics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

Familial aplasia cutis congenita and coarctation of the aorta.

A. Giannotti, B. Dallapiccola, B. Marino, 1992, American journal of medical genetics.

Familial postaxial acrofacial dysostosis syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1992, Journal of medical genetics.

Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins.

M. Digilio, A. Giannotti, B. Dallapiccola, 1999, Teratology.

T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome

B. Marino, A. Giannotti, B. Dallapiccola, 2000, Clinical and experimental immunology.

Chromosome 22q11 microdeletion and isolated conotruncal heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Archives of disease in childhood.

The atrioventricular canal defect is the congenital heart disease connecting short rib-polydactyly and oral-facial-digital syndromes.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, The American journal of cardiology.

Partial deletion 10p syndrome. Report of two patients.

A. Giannotti, B. Dallapiccola, R. Mingarelli, 1992, Annales de genetique.

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

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

Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Pediatric Cardiology.

Down's Syndrome and Celiac Disease: The Prevalence of High IgA‐Antigliadin Antibodies and HLA‐DR and DQ Antigens in Trisomy 21

M. Digilio, A. Giannotti, L. Mottola, 1993, Journal of pediatric gastroenterology and nutrition.

Heterotaxia syndromes and 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of medical genetics.

Atrioventricular canal associated with trisomy 9.

B. Marino, M. Digilio, A. Giannotti, 1989, Chest.

Antiendomysial and antigliadin antibodies in patients with Down syndrome

A. Giannotti, V. Lucidi, A. Crinò, 1996 .

Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

The mendelian basis of congenital heart defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Cardiology in the Young.

recessive syndrome . syndrome : delineation of an autosomal Conotruncal heart defect / microphthalmia

M. Digilio, A. Giannotti, B. Dallapiccola, 2004 .

Familial recurrence of nonsyndromic interrupted aortic arch and truncus arteriosus with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 2000, Teratology.

Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.

B. Marino, M. Digilio, A. Giannotti, 1997, Journal of medical genetics.

Congenital heart defect in sibs with discordant karyotypes.

B. Marino, M. Digilio, A. Giannotti, 1998, American journal of medical genetics.

Intrafamilial variability of Pfeiffer-type cardiocranial syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Familial recurrence of transposition of the great arteries and intact ventricular septum.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, American journal of medical genetics.

Autosomal recessive form of whistling face syndrome in sibs.

A. Giannotti, B. Dallapiccola, A. Lembo, 1989, American journal of medical genetics.

Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes

A Mari, J. Korenberg, M. Digilio, 1999, Journal of medical genetics.

Deletion of the SHOX gene in patients with short stature of unknown cause

G. Scarano, A. Giannotti, V. Gatta, 2003, American journal of medical genetics. Part A.

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome)

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, Genetics in Medicine.

Familial deletions of chromosome 22q11.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

The search for hemizygosity at 22qll in patients with isolated cleft palate.

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, Journal of craniofacial genetics and developmental biology.

Ring 20 chromosome phenotype.

A. Giannotti, B. Dallapiccola, B. Porfirio, 1987, Journal of medical genetics.

Digeorge anomaly associated with partial deletion of chromosome 22. Report of a case with X/22 translocation and review of the literature.

A. Giannotti, B. Dallapiccola, B. Marino, 1989, Annales de genetique.

Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients.

M. Digilio, A. Giannotti, B. Dallapiccola, 1992, Annales de genetique.

Trisomy 8 syndrome owing to isodicentric 8p chromosomes: regional assignment of a presumptive gene involved in corpus callosum development.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Journal of medical genetics.

Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, American journal of medical genetics.

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

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

Atrioventricular canal and 8p- syndrome.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of medical genetics.

Search for 22q11 deletion in non-syndromic conotruncal cardiac defects

M. Digilio, A. Giannotti, B. Dallapiccola, 1996, European Journal of Pediatrics.

Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): exclusion from the critical region on 8p.

B. Marino, M. Digilio, A. Giannotti, 1995, American journal of medical genetics.

Risk of congenital heart defects in relatives of patients with atrioventricular canal.

M. Digilio, A. Giannotti, B. Dallapiccola, 1993, American journal of diseases of children.

Exclusion of linkage with chromosome 21 in families with recurrence of non-Down's atrioventricular canal

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, Human Genetics.

Familial atrioventricular septal defect: possible genetic mechanism.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, British heart journal.

Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype.

M. Digilio, A. Giannotti, B. Dallapiccola, 1994, American journal of medical genetics.

Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 1995, Human Genetics.

Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.

P. Vadalà, M. Mangino, A. Giannotti, 1997, American journal of medical genetics.

Tricuspid atresia and 22q11 deletion.

B. Marino, M. Digilio, A. Giannotti, 1997, American journal of medical genetics.

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

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

Maternal diabetes causing DiGeorge anomaly and renal agenesis.

M. Digilio, A. Giannotti, B. Marino, 1995, American journal of medical genetics.

Conotruncal heart defects and chromosome 22q11 microdeletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, The Journal of pediatrics.

Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family

M. Digilio, A. Giannotti, G. Tiberio, 2000, Journal of medical genetics.

Radiographic findings in Wiedemann-Rautenstrauch syndrome

M. Digilio, A. Giannotti, B. Dallapiccola, 2005, Pediatric Radiology.

Turner's syndrome with atrioventricular canal

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

Growth and pubertal spurt in Williams syndrome

A. Pasquino, A. Giannotti, M. Cappa, 1993 .

Serum NGF levels in children and adolescents with either Williams syndrome or Down syndrome.

V. Volterra, O. Capirci, E. Alleva, 2000 .

Serum NGF levels in children and adolescents with either Williams syndrome or Down syndrome

V. Volterra, O. Capirci, E. Alleva, 2000, Developmental medicine and child neurology.

Radial aplasia and chromosome 22q11 deletion.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, Journal of medical genetics.

Pulmonary atresia with ventricular septal defect: prevalence of deletion 22q11 in the different anatomic patterns.

M. Digilio, A. Giannotti, B. Dallapiccola, 2001 .

Guidelines for 22q11 deletion screening of patients with conotruncal defects.

B. Marino, M. Digilio, A. Giannotti, 1999, Journal of the American College of Cardiology.

Isolated conotruncal heart defects are really related to microdeletion of chromosome 22q11

M. Digilio, A. Giannotti, B. Dallapiccola, 1996 .

Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies

M. Digilio, A. Giannotti, B. Dallapiccola, 2001, European Journal of Pediatrics.

Neurofibromatosis Type 1 Presenting With Hand Dystonia

A. Giannotti, D. Longo, M. di Capua, 2001, Journal of child neurology.

A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia

A. Giannotti, A. Tessa, F. Santorelli, 2000, Human mutation.

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.

M. Digilio, A. Giannotti, B. Dallapiccola, 1997, American journal of medical genetics.

Deletion 2q31.3→2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase

A. Giannotti, B. Dallapiccola, G. Novelli, 1988, Human Genetics.