PubMed

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

Messina S, Tortorella G, Concolino D, Spanò M, D'Amico A, Bruno C, Santorelli FM, Mercuri E, Bertini E.

Neurology. 2009 Nov 10;73(19):1599-601. No abstract available. PMID: 19901254 [PubMed - in process]Related articles

Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency.

Porta F, Mussa A, Concolino D, Spada M, Ponzone A.

Neurology. 2009 Aug 25;73(8):633-7.PMID: 19704083 [PubMed - indexed for MEDLINE]Related articles

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.

Concolino D, Muzzi G, Sestito S, Vega G, Bonapace G, Strisciuglio P.

Eur J Pediatr. 2009 Jun 11. [Epub ahead of print]PMID: 19517134 [PubMed - as supplied by publisher]Related articles

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

Bertelloni S, Balsamo A, Giordani L, Fischetto R, Russo G, Delvecchio M, Gennari M, Nicoletti A, Maggio MC, Concolino D, Cavallo L, Cicognani A, Chiumello G, Hiort O, Baroncelli GI, Faienza MF.

J Endocrinol Invest. 2009 May 12. [Epub ahead of print]PMID: 19498320 [PubMed - as supplied by publisher]Related articles

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.

Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M.

J Hepatol. 2009 Jan;50(1):215-21. Epub 2008 Oct 31.PMID: 19012992 [PubMed - indexed for MEDLINE]Related articles

Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new cases.

Concolino D, Muzzi G, Pisaturo L, Piccirillo A, Di Natale P, Strisciuglio P.

Eur J Med Genet. 2008 Sep-Oct;51(5):466-71. Epub 2008 May 23.PMID: 18586597 [PubMed - indexed for MEDLINE]Related articles

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index.

Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G, Concolino D, Strisciuglio P, Feriozzi S, Di Vito R, Ravaglia R, Ricci R, Morrone A.

Clin Genet. 2008 Sep;74(3):260-6. Epub 2008 Apr 24.PMID: 18445046 [PubMed - indexed for MEDLINE]Related articles

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients.

Concolino D, Muzzi G, Rapsomaniki M, Moricca MT, Pascale MG, Strisciuglio P.

J Inherit Metab Dis. 2008 Apr 15. [Epub ahead of print]PMID: 18425437 [PubMed - as supplied by publisher]Related articles

Which cystography in the diagnosis and grading of vesicoureteral reflux?

Piscitelli A, Galiano R, Serrao F, Concolino D, Vitale R, D'Ambrosio G, Pascale V, Strisciuglio P.

Pediatr Nephrol. 2008 Jan;23(1):107-10. Epub 2007 Nov 7.PMID: 17987321 [PubMed - indexed for MEDLINE]Related articles

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.

Concolino D, Rossi E, Strisciuglio P, Iembo MA, Giorda R, Ciccone R, Tenconi R, Zuffardi O.

J Med Genet. 2007 Oct;44(10):647-50.PMID: 17911656 [PubMed - indexed for MEDLINE]Related articles

GH secretion in a cohort of children with pseudohypoparathyroidism type Ia.

de Sanctis L, Bellone J, Salerno M, Faleschini E, Caruso-Nicoletti M, Cicchetti M, Concolino D, Balsamo A, Buzi F, Ghizzoni L, de Sanctis C.

J Endocrinol Invest. 2007 Feb;30(2):97-103.PMID: 17392598 [PubMed - indexed for MEDLINE]Related articles

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

Beesley CE, Concolino D, Filocamo M, Winchester BG, Strisciuglio P.

Mol Genet Metab. 2007 Jan;90(1):77-80. Epub 2006 Sep 20.PMID: 16990043 [PubMed - indexed for MEDLINE]Related articles

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years.

de Falco FA, Olivieri P, de Falco A, Concolino D, Battaglia F, Verardi R, Grande G, Stabile M.

Seizure. 2006 Sep;15(6):449-53. Epub 2006 Jun 27.PMID: 16806995 [PubMed - indexed for MEDLINE]Related articles

Early detection of podiatric anomalies in children with Down syndrome.

Concolino D, Pasquzzi A, Capalbo G, Sinopoli S, Strisciuglio P.

Acta Paediatr. 2006 Jan;95(1):17-20.PMID: 16373291 [PubMed - indexed for MEDLINE]Related articles

High prevalence of isolated pericardial effusion in Down syndrome.

Concolino D, Pascuzzi A, Pietragalla E, Lia R, Canepa S, Strisciuglio P.

Am J Med Genet A. 2005 Jan 30;132A(3):331-2. No abstract available. PMID: 15523613 [PubMed - indexed for MEDLINE]Related articles

High seroprevalence of Helicobacter pylori infection in non-institutionalised children with mental retardation.

Luzza F, Concolino D, Imeneo M, Pascuzzi A, Pietragalla E, Pallone F, Strisciuglio P.

Clin Microbiol Infect. 2004 Jul;10(7):670-3.PMID: 15214885 [PubMed - indexed for MEDLINE]Related articles

Down syndrome and breastfeeding.

Pisacane A, Toscano E, Pirri I, Continisio P, Andria G, Zoli B, Strisciuglio P, Concolino D, Piccione M, Lo Giudice C, Vicari S.

Acta Paediatr. 2003 Dec;92(12):1479-81.PMID: 14971802 [PubMed - indexed for MEDLINE]Related articles

A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency.

Bonapace G, Concolino D, Formicola S, Strisciuglio P.

J Med Genet. 2003 Dec;40(12):913-7. No abstract available. PMID: 14684690 [PubMed - indexed for MEDLINE]Related articlesFree article

Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation.

Concolino D, Iembo MA, Moricca MT, Strisciuglio P, Marotta R, Rossi E, Giglio S.

Am J Med Genet A. 2003 Dec 1;123A(2):201-3. No abstract available. PMID: 14598349 [PubMed - indexed for MEDLINE]Related articles

Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1.

Concolino D, Mussari A, Filocamo M, Strisciuglio P.

Clin Genet. 2003 Sep;64(3):261-2. Review. No abstract available. PMID: 12919144 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

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. PMID: 12566529 [PubMed - indexed for MEDLINE]Related articlesFree article

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions.

Concolino D, Iembo MA, Rossi E, Giglio S, Coppola G, Miraglia Del Giudice E, Strisciuglio P.

J Med Genet. 2002 Mar;39(3):214-6. No abstract available. PMID: 11897828 [PubMed - indexed for MEDLINE]Related articlesFree article

Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Cuda G, Mussari A, Concolino D, Costanzo FS, Strisciuglio P.

Hum Mutat. 2002 Mar;19(3):309-10.PMID: 11857753 [PubMed - indexed for MEDLINE]Related articles

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M.

Am J Med Genet. 2001 Dec 15;104(4):277-81. Erratum in: Am J Med Genet 2002 Jun 15;110(2):193. PMID: 11754059 [PubMed - indexed for MEDLINE]Related articles

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

Concolino D, Formicola S, Camera G, Strisciuglio P.

Am J Med Genet. 2000 May 29;92(3):191-4.PMID: 10817653 [PubMed - indexed for MEDLINE]Related articles

Centric fission of chromosome 9 in a boy with trisomy 9p.

Concolino D, Cinti R, Moricca M, Andria G, Strisciuglio P.

Am J Med Genet. 1998 Aug 27;79(1):35-7.PMID: 9738866 [PubMed - indexed for MEDLINE]Related articles

[Diabetes, hypothyroidism and celiac disease in Down's syndrome. A case report]

Rosso C, Cecere G, Concolino D, Baserga M.

Minerva Pediatr. 1997 Oct;49(10):483-5. Italian. PMID: 9557494 [PubMed - indexed for MEDLINE]Related articles

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

Concolino D, Cinti R, Ferraro L, Moricca MT, Strisciuglio P.

J Med Genet. 1998 Jan;35(1):75-7. Review.PMID: 9475102 [PubMed - indexed for MEDLINE]Related articlesFree article

Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Guzzetta V, Bonapace G, Dianzani I, Parenti G, Lecora M, Giannattasio S, Concolino D, Strisciuglio P, Sebastio G, Andria G.

J Inherit Metab Dis. 1997 Sep;20(5):619-24.PMID: 9323556 [PubMed - indexed for MEDLINE]Related articles

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

Staiano A, Salerno M, Di Maio S, Marsullo G, Marino A, Concolino D, Strisciuglio P.

Arch Dis Child. 1996 Nov;75(5):440-3.PMID: 8957960 [PubMed - indexed for MEDLINE]Related articlesFree article

A mild form of Roberts/SC phocomelia syndrome with asymmetrical reduction of the upper limbs.

Concolino D, Sperlì D, Cinti R, Strisciuglio P, Andria G.

Clin Genet. 1996 May;49(5):274-6.PMID: 8832138 [PubMed - indexed for MEDLINE]Related articles

Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria.

Strisciuglio P, Concolino D, Moricca MT, Rivalta L, Parlato G.

Eur J Pediatr. 1995 Oct;154(10):866. No abstract available. PMID: 8529692 [PubMed - indexed for MEDLINE]Related articles

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

Sperli D, Concolino D, Barbato C, Strisciuglio P, Andria G.

J Med Genet. 1993 Oct;30(10):877-9.PMID: 8230168 [PubMed - indexed for MEDLINE]Related articlesFree article