Alpha 2.0
Login Register
» Authors » C Bacchelli

C Bacchelli

Explore the profile of C Bacchelli including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 10
Citations 206
Followers 0
Related Specialties
Genetics
Gastroenterology
General Surgery
Top 10 Co-Authors
F R Goodman
P J Scambler
R M Winter
L C F de Nes
C Iacono
D P Mortlock
M Montorsi
A F Brady
C A Johnson
P Labrune
Published In
J Med Genet
Colorectal Dis
Clin Genet
Am J Hum Genet
Nucleosides Nucleotides Nucleic Acids
Affiliations
Soon will be listed here.
Recent Articles
1.
Single-port laparoscopic Hartmann reversal through the stoma site - a video vignette
de Nes L, Bacchelli C, Montorsi M, Spinelli A
Colorectal Dis . 2015 Nov; 18(2):215. PMID: 26588201
No abstract available.
2.
Colorectal polyposis: clinical presentation and surgical treatment
Urso E, Delaini G, Campi M, Bacchelli C, Pucciarelli S
Colorectal Dis . 2014 Dec; 17 Suppl 1:61-6. PMID: 25511863
No abstract available.
3.
Systematic review of central pancreatectomy and meta-analysis of central versus distal pancreatectomy
Iacono C, Verlato G, Ruzzenente A, Campagnaro T, Bacchelli C, Valdegamberi A, et al.
Br J Surg . 2013 May; 100(7):873-85. PMID: 23640664
Background: Central pancreatectomy (CP) is a parenchyma-sparing surgical procedure that enables the removal of benign and/or low-grade malignant lesions from the neck and proximal body of the pancreas. The aim...
4.
Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency
Bacchelli C, Buckridge S, Thrasher A, Gaspar H
Clin Exp Immunol . 2007 Aug; 149(3):401-9. PMID: 17697196
Common variable immunodeficiency (CVID) is a primary immunodeficiency that typically affects adults and is characterized by abnormalities of quantative and qualitative humoral function that are heterogeneous in their immunological profile...
5.
ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome
Bacchelli C, Wilson L, Cook J, Winter R, Goodman F
Clin Genet . 2003 Aug; 64(3):263-5. PMID: 12919145
No abstract available.
6.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Morgan N, Bacchelli C, Gissen P, Morton J, Ferrero G, Silengo M, et al.
J Med Genet . 2003 Jun; 40(6):431-5. PMID: 12807964
Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed...
7.
Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13
Debeer P, Bacchelli C, Scambler P, De Smet L, Fryns J, Goodman F
J Med Genet . 2002 Nov; 39(11):852-6. PMID: 12414828
No abstract available.
8.
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN
Bacchelli C, Goodman F, Scambler P, Winter R
Clin Genet . 2001 Mar; 59(3):203-5. PMID: 11260233
No abstract available.
9.
Synthesis and biological activities of new carbaacyclonucleosides and 1'-oxaacyclonucleosides related to clitocine
Bacchelli C, Condom R, Patino N, Aubertin A
Nucleosides Nucleotides Nucleic Acids . 2000 Jun; 19(3):567-84. PMID: 10843493
We describe the synthesis of two series of acyclonucleosides:carbaacyclonucleosides and 1'-oxaacyclonucleosides which possess the same aglycone as clitocine 3 which is a natural nucleoside exhibiting interesting biological properties. These compounds...
10.
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome
Goodman F, Bacchelli C, Brady A, Brueton L, Fryns J, Mortlock D, et al.
Am J Hum Genet . 2000 Jun; 67(1):197-202. PMID: 10839976
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected...