Dallapiccola B - Search Results

1

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group. Brancati F, et al. Among authors: dallapiccola b. Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924. Hum Mutat. 2009. PMID: 19058225 Free PMC article.

2

A novel mutation (R271X) in the myotubularin gene causes a severe miotubular myopathy.

De Luca A, Torrente I, Mangino M, Bertini E, Dallapiccola B, Novelli G. De Luca A, et al. Among authors: dallapiccola b. Hum Hered. 1999 Jan;49(1):59-60. doi: 10.1159/000022843. Hum Hered. 1999. PMID: 9858861

3

Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women.

Semprini S, Mango R, Brancati F, Dallapiccola B, Becherini L, Novelli G, De Lorenzo A, Brandi ML, Gennari L. Semprini S, et al. Among authors: dallapiccola b. Calcif Tissue Int. 2000 Jul;67(1):93-4. doi: 10.1007/s00223001103. Calcif Tissue Int. 2000. PMID: 10908420

4

PARK6-linked parkinsonism occurs in several European families.

Valente EM, Brancati F, Ferraris A, Graham EA, Davis MB, Breteler MM, Gasser T, Bonifati V, Bentivoglio AR, De Michele G, Dürr A, Cortelli P, Wassilowsky D, Harhangi BS, Rawal N, Caputo V, Filla A, Meco G, Oostra BA, Brice A, Albanese A, Dallapiccola B, Wood NW; European Consortium on Genetic Susceptibility in Parkinson's Disease. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2002 Jan;51(1):14-8. Ann Neurol. 2002. PMID: 11782979

5

Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles.

Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Colosimo A, et al. Among authors: dallapiccola b. Hum Mutat. 2002 Mar;19(3):287-95. doi: 10.1002/humu.10046. Hum Mutat. 2002. PMID: 11857746

6

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

Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B. Mangino M, et al. Among authors: dallapiccola b. Hum Mutat. 2002 Mar;19(3):308. doi: 10.1002/humu.9016. Hum Mutat. 2002. PMID: 11857750

7

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

Brancati F, Defazio G, Caputo V, Valente EM, Pizzuti A, Livrea P, Berardelli A, Dallapiccola B. Brancati F, et al. Among authors: dallapiccola b. Mov Disord. 2002 Mar;17(2):392-7. doi: 10.1002/mds.10077. Mov Disord. 2002. PMID: 11921130

8

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Valente EM, Brancati F, Caputo V, Bertini E, Patrono C, Costanti D, Dallapiccola B. Valente EM, et al. Among authors: dallapiccola b. Ann Neurol. 2002 Jun;51(6):681-5. doi: 10.1002/ana.10204. Ann Neurol. 2002. PMID: 12112072

9

Primary hypothyroidism and osteopenia associated with Neuhauser syndrome.

Sarkozy A, Mingarelli R, Brancati F, Dallapiccola B. Sarkozy A, et al. Among authors: dallapiccola b. Am J Med Genet. 2002 Sep 1;111(4):412-4. doi: 10.1002/ajmg.10577. Am J Med Genet. 2002. PMID: 12210302

10

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

Defazio G, Brancati F, Valente EM, Caputo V, Pizzuti A, Martino D, Abbruzzese G, Livrea P, Berardelli A, Dallapiccola B. Defazio G, et al. Among authors: dallapiccola b. Mov Disord. 2003 Feb;18(2):207-12. doi: 10.1002/mds.10314. Mov Disord. 2003. PMID: 12539217

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

977 results

Search Page

Filters