J M Rommens
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Explore the profile of J M Rommens including associated specialties, affiliations and a list of published articles.
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69
Citations
8228
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Recent Articles
1.
Boocock G, Marit M, Rommens J
Genomics
. 2006 Mar;
87(6):758-71.
PMID: 16529906
The Shwachman-Bodian-Diamond syndrome (SBDS) protein family occurs widely in nature, although its function has not been determined. Comprehensive database searches revealed SBDS homologues from 159 species, including examples from all...
2.
Makitie O, Ellis L, Durie P, Morrison J, Sochett E, Rommens J, et al.
Clin Genet
. 2004 Feb;
65(2):101-12.
PMID: 14984468
Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable and not consistently observed. The genetic defect...
3.
Gyomorey K, Garami E, Galley K, Rommens J, Bear C
Pflugers Arch
. 2002 Feb;
443 Suppl 1:S103-6.
PMID: 11845313
While most cystic fibrosis (CF) transmembrane conductance regulator (CFTR)-knockout animals die due to intestinal obstruction before or at the time of weaning, a subpopulation of these animals are long living...
4.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock G, et al.
Am J Hum Genet
. 2001 Mar;
68(4):1048-54.
PMID: 11254457
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by exocrine pancreatic insufficiency and hematologic and skeletal abnormalities. A genomewide scan of families with SDS was terminated at approximately 50%...
5.
Lechardeur D, Drzymala L, Sharma M, Zylka D, Kinach R, Pacia J, et al.
J Cell Biol
. 2000 Jul;
150(2):321-34.
PMID: 10908575
Programmed cell death or apoptosis leads to the activation of the caspase-activated DNase (CAD), which degrades chromosomal DNA into nucleosomal fragments. Biochemical studies revealed that CAD forms an inactive heterodimer...
6.
Van Oene M, Lukacs G, Rommens J
J Biol Chem
. 2000 Apr;
275(26):19577-84.
PMID: 10764788
Inefficient delivery of the cystic fibrosis transmembrane conductance regulator (CFTR) to the surface of cells contributes to disease in the majority of cystic fibrosis patients. Analysis of cystic fibrosis-associated missense...
7.
Ginzberg H, Shin J, Ellis L, Goobie S, Morrison J, Corey M, et al.
Am J Hum Genet
. 2000 Mar;
66(4):1413-6.
PMID: 10739765
Shwachman-Diamond syndrome is a rare disorder of unknown cause. Reports have indicated the occurrence of affected siblings, but formal segregation analysis has not been performed. In families collected for genetic...
8.
Goobie S, Morrison J, Ginzberg H, Ellis L, Corey M, Masuno M, et al.
Am J Med Genet
. 1999 Jul;
85(2):171-4.
PMID: 10406671
Shwachman-Diamond syndrome is a rare genetic disorder of unknown pathogenesis involving exocrine pancreatic insufficiency and hematological and skeletal abnormalities. There is broad clinical variability; the extent of heterogeneity is unknown...
9.
Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, et al.
J Pediatr
. 1999 Jul;
135(1):81-8.
PMID: 10393609
Objectives: With the use of clinical data from a large international cohort, we evaluated and compared affected siblings and isolated cases. Study Design: Data from 116 families were collected, and...
10.
Heus H, Hing A, van Baren M, Joosse M, Breedveld G, Wang J, et al.
Genomics
. 1999 May;
57(3):342-51.
PMID: 10329000
Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped...