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Items: 1 to 50 of 139

1.

Behavior problems in children with specific language impairment.

Maggio V, Grañana NE, Richaudeau A, Torres S, Giannotti A, Suburo AM.

J Child Neurol. 2014 Feb;29(2):194-202. doi: 10.1177/0883073813509886. Epub 2013 Nov 21.

PMID:
24272522
2.

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

Digilio MC, Torrente I, Goodship JA, Marino B, Novelli G, Giannotti A, Dallapiccola B.

Am J Med Genet A. 2004 Apr 30;126A(3):319-23. No abstract available.

PMID:
15054850
3.

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

Digilio MC, Giannotti A, Dallapiccola B, Marino B.

Clin Genet. 2003 Nov;64(5):447-8. No abstract available.

PMID:
14616771
4.

Malignant pancreatic endocrine tumor in a child with tuberous sclerosis.

Francalanci P, Diomedi-Camassei F, Purificato C, Santorelli FM, Giannotti A, Dominici C, Inserra A, Boldrini R.

Am J Surg Pathol. 2003 Oct;27(10):1386-9.

PMID:
14508401
5.

Recurrence of HCV infection in liver transplant patients: evaluation of IgM anti-HCV and IgM anti-CMV.

Ceccherini-Nelli L, Giannotti A, Malizia T, Ciccorossi P, Olivieri F, Vanni M, Lico S, Campani D, Filipponi F, Brunetto M, Mosca F, Campa M.

Transplant Proc. 2003 May;35(3):1030-1. No abstract available.

PMID:
12947847
6.

Impact of antiviral treatment on recurrence of hepatitis B virus infection and disease.

Ciccorossi P, Filipponi F, Oliveri F, Coco B, Colombatto P, Giannotti A, Bonino F, Campa M, Mosca F, Brunetto MR.

Transplant Proc. 2003 May;35(3):1028-9. No abstract available.

PMID:
12947846
7.

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

Digilio MC, Giannotti A, Castro M, Colistro F, Ferretti F, Marino B, Dallapiccola B.

Am J Med Genet A. 2003 Sep 1;121A(3):286-8. No abstract available.

PMID:
12923874
8.

Truncus arteriosus and duplication 8q.

Digilio MC, Angioni A, Giannotti A, Dallapiccola B, Marino B.

Am J Med Genet A. 2003 Aug 15;121A(1):79-81. No abstract available.

PMID:
12900908
9.

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

Tessa A, Salvi S, Casali C, Garavelli L, Digilio MC, Dotti MT, Di Giandomenico S, Valoppi M, Grieco GS, Comanducci G, Bianchini G, Fortini D, Federico A, Giannotti A, Santorelli FM.

Hum Mutat. 2003 Jul;22(1):104.

PMID:
12815605
10.

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

Digilio MC, Marino B, Giannotti A, Dallapiccola B, Opitz JM.

Birth Defects Res A Clin Mol Teratol. 2003 Mar;67(3):149-53.

PMID:
12797454
11.

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

Morizio E, Stuppia L, Gatta V, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Verrotti A, Chiarelli F, Calabrese G, Palka G.

Am J Med Genet A. 2003 Jun 15;119A(3):293-6.

PMID:
12784295
12.

Glutathione metabolism and antioxidant enzymes in children with Down syndrome.

Pastore A, Tozzi G, Gaeta LM, Giannotti A, Bertini E, Federici G, Digilio MC, Piemonte F.

J Pediatr. 2003 May;142(5):583-5.

PMID:
12756395
13.

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

Digilio MC, Angioni A, De Santis M, Lombardo A, Giannotti A, Dallapiccola B, Marino B.

Clin Genet. 2003 Apr;63(4):308-13.

PMID:
12702165
14.

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

Stuppia L, Calabrese G, Gatta V, Pintor S, Morizio E, Fantasia D, Guanciali Franchi P, Rinaldi MM, Scarano G, Concolino D, Giannotti A, Petreschi F, Anzellotti MT, Pomilio M, Chiarelli F, Tumini S, Palka G.

J Med Genet. 2003 Feb;40(2):E11. No abstract available.

15.

Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.

Patrono C, Dionisi-Vici C, Giannotti A, Bembi B, Digilio MC, Rizzo C, Purificato C, Martini C, Pierini R, Santorelli FM.

Mol Cell Probes. 2002 Aug;16(4):315-8.

PMID:
12270273
16.

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

Toscano A, Anaclerio S, Digilio MC, Giannotti A, Fariello G, Dallapiccola B, Marino B.

Eur J Pediatr. 2002 Feb;161(2):116-7. No abstract available.

PMID:
11954747
17.

Exercise testing and 24-hour ambulatory blood pressure monitoring in children with Williams syndrome.

Giordano U, Turchetta A, Giannotti A, Digilio MC, Virgilii F, Calzolari A.

Pediatr Cardiol. 2001 Nov-Dec;22(6):509-11. Epub 2001 Dec 4.

PMID:
11894156
18.

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

Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B.

Hum Mutat. 2002 Mar;19(3):308.

PMID:
11857750
19.

Intracranial effects of endotracheal suctioning in the acute phase of head injury.

Gemma M, Tommasino C, Cerri M, Giannotti A, Piazzi B, Borghi T.

J Neurosurg Anesthesiol. 2002 Jan;14(1):50-4.

PMID:
11773824
20.

Effect of removable orthodontic appliances on oral colonisation by mutans streptococci in children.

Batoni G, Pardini M, Giannotti A, Ota F, Giuca MR, Gabriele M, Campa M, Senesi S.

Eur J Oral Sci. 2001 Dec;109(6):388-92.

PMID:
11767275
21.

Complete transposition of the great arteries: patterns of congenital heart disease in familial precurrence.

Digilio MC, Casey B, Toscano A, Calabrò R, Pacileo G, Marasini M, Banaudi E, Giannotti A, Dallapiccola B, Marino B.

Circulation. 2001 Dec 4;104(23):2809-14.

PMID:
11733399
22.

Coeliac disease in Williams syndrome.

Giannotti A, Tiberio G, Castro M, Virgilii F, Colistro F, Ferretti F, Digilio MC, Gambarara M, Dallapiccola B.

J Med Genet. 2001 Nov;38(11):767-8.

23.

Ext-mutation analysis in Italian sporadic and hereditary osteochondromas.

Gigante M, Matera MG, Seripa D, Izzo AM, Venanzi R, Giannotti A, Digilio MC, Gravina C, Lazzari M, Monteleone G, Monteleone M, Dallapiccola B, Fazio VM.

Int J Cancer. 2001 Nov 20;95(6):378-83.

24.

Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study.

Bonamico M, Mariani P, Danesi HM, Crisogianni M, Failla P, Gemme G, Quartino AR, Giannotti A, Castro M, Balli F, Lecora M, Andria G, Guariso G, Gabrielli O, Catassi C, Lazzari R, Balocco NA, De Virgiliis S, Culasso F, Romano C; SIGEP (Italian Society of Pediatric Gastroenterology and Hepatology) and Medical Genetic Group.

J Pediatr Gastroenterol Nutr. 2001 Aug;33(2):139-43.

PMID:
11568513
25.

Opioid overdose in a patient using a fentanyl patch during treatment with a warming blanket.

Frölich MA, Giannotti A, Modell JH.

Anesth Analg. 2001 Sep;93(3):647-8. Erratum in: Anesth Analg 2002 May;94(5):1172. Frölich M [corrected to Frölich MA].

PMID:
11524334
26.

Neurofibromatosis type 1 presenting with hand dystonia.

Di Capua M, Lispi ML, Giannotti A, Longo D, Fariello G.

J Child Neurol. 2001 Aug;16(8):606-8.

PMID:
11510936
27.

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

Anaclerio S, Marino B, Carotti A, Digilio MC, Toscano A, Gitto P, Giannotti A, Di Donato R, Dallapiccola B.

Ital Heart J. 2001 May;2(5):384-7.

PMID:
11392644
28.

Congenital heart defects in Kabuki syndrome.

Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B.

Am J Med Genet. 2001 May 15;100(4):269-74. Review.

PMID:
11343317
29.

Anatomic patterns of conotruncal defects associated with deletion 22q11.

Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B.

Genet Med. 2001 Jan-Feb;3(1):45-8.

PMID:
11339377
30.

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

Digilio MC, Marino B, Cappa M, Cambiaso P, Giannotti A, Dallapiccola B.

Genet Med. 2001 Jan-Feb;3(1):30-3.

PMID:
11339374
31.

Maternally inherited deafness associated with a T1095C mutation in the mDNA.

Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM.

Eur J Hum Genet. 2001 Feb;9(2):147-9.

32.

Rapid detection of the 35delG mutation in the GJB2 gene in childhood deafness.

Tessa A, Patrono C, Santorelli FM, Giannotti A, Digilio MC, Pacifico C, Presuttari F, Tieri L.

J Med Screen. 2000;7(3):167. No abstract available.

PMID:
11126168
33.

Nasal cartilage aplasia in a family with facioaudiosymphalangism syndrome.

Obregon MG, Digilio MC, Mingarelli R, Pacifico C, Tieri L, Giannotti A, Dallapiccola B.

Am J Otolaryngol. 2000 Nov-Dec;21(6):405-8. No abstract available.

PMID:
11115527
34.

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

Calamandrei G, Alleva E, Cirulli F, Queyras A, Volterra V, Capirci O, Vicari S, Giannotti A, Turrini P, Aloe L.

Dev Med Child Neurol. 2000 Nov;42(11):746-50.

35.

Antigliadin and antiendomysial antibodies in children with Down's syndrome.

Papadatou B, Ferretti F, Giannotti A, Colistro F, Gambarara M, Digilio MC, Castro M.

Dig Liver Dis. 2000 Jun-Jul;32(5):453. No abstract available.

PMID:
11030193
36.

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

Digilio MC, Marino B, Giannotti A, Di Donato R, Dallapiccola B.

Am J Med Genet. 2000 Sep 18;94(3):198-200.

PMID:
10995505
37.

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

Giannotti A, Tessa A, Patrono C, Florio LD, Velardo M, Dionisi-Vici C, Bertini E, Santorelli FM.

Hum Mutat. 2000 Sep;16(3):277. No abstract available.

PMID:
10980549
38.

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

Tiberio G, Diglio MC, Graziani M, Testa F, Giannotti A.

J Med Genet. 2000 Jul;37(7):548-51. No abstract available.

39.

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

Palka G, Stuppia L, Guanciali Franchi P, Chiarelli F, Fischetto R, Borrelli P, Giannotti A, Fioretti G, Rinaldi MM, Mingarelli R, Rappold GA, Calabrese G.

Clin Genet. 2000 Jun;57(6):449-53.

PMID:
10905666
40.

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

Giglio S, Graw SL, Gimelli G, Pirola B, Varone P, Voullaire L, Lerzo F, Rossi E, Dellavecchia C, Bonaglia MC, Digilio MC, Giannotti A, Marino B, Carrozzo R, Korenberg JR, Danesino C, Sujansky E, Dallapiccola B, Zuffardi O.

Circulation. 2000 Jul 25;102(4):432-7.

PMID:
10908216
41.

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

Digilio MC, Pacifico C, Tieri L, Marino B, Giannotti A, Dallapiccola B.

Br J Audiol. 1999 Oct;33(5):329-33.

PMID:
10890147
42.

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

Pierdominici M, Marziali M, Giovannetti A, Oliva A, Rosso R, Marino B, Digilio MC, Giannotti A, Novelli G, Dallapiccola B, Aiuti F, Pandolfi F.

Clin Exp Immunol. 2000 Jul;121(1):127-32.

43.

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

Botta A, Novelli G, Mari A, Novelli A, Sabani M, Korenberg J, Osborne LR, Digilio MC, Giannotti A, Dallapiccola B.

J Med Genet. 1999 Jun;36(6):478-80.

44.

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

Tiberio G, Digilio MC, Giannotti A.

Minerva Pediatr. 1999 Sep-Oct;51(9-10):313-8. Review. English, Italian.

PMID:
10783592
45.

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

Digilio MC, Marino B, Musolino AM, Giannotti A, Dallapiccola B.

Teratology. 2000 May;61(5):329-31.

PMID:
10777827
46.

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

Pastore E, Marino B, Calzolari A, Digilio MC, Giannotti A, Turchetta A.

Arch Pediatr Adolesc Med. 2000 Apr;154(4):408-10.

PMID:
10768682
47.

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

Patrono C, Rizzo C, Tessa A, Giannotti A, Borrelli P, Carrozzo R, Piemonte F, Bertini E, Dionisi-Vici C, Santorelli FM.

Am J Med Genet. 2000 Mar 13;91(2):138-40.

PMID:
10748414
48.

Obesity and WAGR syndrome.

Tiberio G, Digilio MC, Giannotti A.

Clin Dysmorphol. 2000 Jan;9(1):63-4.

PMID:
10649802
49.

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

Amati F, Conti E, Novelli A, Bengala M, Diglio MC, Marino B, Giannotti A, Gabrielli O, Novelli G, Dallapiccola B.

Eur J Hum Genet. 1999 Dec;7(8):903-9.

50.

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

Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B.

J Pediatr. 1999 Dec;135(6):703-6.

PMID:
10586172

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