-
1
-
-
0033647213
-
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
-
Mandel H., Abeling A., Gutman A., Berant M., Scholten E.G., Sheiman C., et al. Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis. Prenat Diagn 20 (2000) 927-929
-
(2000)
Prenat Diagn
, vol.20
, pp. 927-929
-
-
Mandel, H.1
Abeling, A.2
Gutman, A.3
Berant, M.4
Scholten, E.G.5
Sheiman, C.6
-
2
-
-
2042450929
-
Prolidase deficiency
-
Scriver C.R., et al. (Ed), McGraw-Hill, New York
-
th ed (2001), McGraw-Hill, New York 1839-1853
-
(2001)
th ed
, pp. 1839-1853
-
-
Hechtman, P.1
-
3
-
-
0037043663
-
Variant cystic fibrosis phenotypes in the absence of CFTR mutations
-
Groman J.D., Meyer M.E., Wilmott R.W., Zeitlin P.L., and Cutting G.R. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. N Engl J Med 347 (2002) 401-407
-
(2002)
N Engl J Med
, vol.347
, pp. 401-407
-
-
Groman, J.D.1
Meyer, M.E.2
Wilmott, R.W.3
Zeitlin, P.L.4
Cutting, G.R.5
-
4
-
-
0033606777
-
National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis
-
National Institutes of Health consensus development conference statement on genetic testing for cystic fibrosis. Arch Intern Med 159 (1999) 1529-1539
-
(1999)
Arch Intern Med
, vol.159
, pp. 1529-1539
-
-
-
5
-
-
0033426331
-
Cystic fibrosis mutations in Israeli-Arab patients
-
Laufer-Cahana A., Lerer I., Sagi M., Rachmilewitz M.T., Zamir C., Rivlin J., et al. Cystic fibrosis mutations in Israeli-Arab patients. Hum Mutat 14 (1999) 543
-
(1999)
Hum Mutat
, vol.14
, pp. 543
-
-
Laufer-Cahana, A.1
Lerer, I.2
Sagi, M.3
Rachmilewitz, M.T.4
Zamir, C.5
Rivlin, J.6
-
6
-
-
0024463492
-
DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis
-
Rosenbloom C.L., Kerem B.S., Rommens J.M., Tsui L.C., Wainwright B., Williamson R., et al. DNA amplification for detection of the XV-2c polymorphism linked to cystic fibrosis. Nucl Acids Res 17 (1989) 7117
-
(1989)
Nucl Acids Res
, vol.17
, pp. 7117
-
-
Rosenbloom, C.L.1
Kerem, B.S.2
Rommens, J.M.3
Tsui, L.C.4
Wainwright, B.5
Williamson, R.6
-
7
-
-
0025002239
-
Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus
-
Horn G.T., Richards B., Merrill J.J., and Klinger K.W. Characterization and rapid diagnostic analysis of DNA polymorphisms closely linked to the cystic fibrosis locus. Clin Chem 36 (1990) 1614-1619
-
(1990)
Clin Chem
, vol.36
, pp. 1614-1619
-
-
Horn, G.T.1
Richards, B.2
Merrill, J.J.3
Klinger, K.W.4
-
8
-
-
0026551786
-
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
-
Dork T., Neumann T., Wulbrand U., Wulf B., Kalin N., Maass G., et al. Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet 88 (1992) 417-425
-
(1992)
Hum Genet
, vol.88
, pp. 417-425
-
-
Dork, T.1
Neumann, T.2
Wulbrand, U.3
Wulf, B.4
Kalin, N.5
Maass, G.6
-
9
-
-
0025133518
-
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene
-
Kerem B.S., Zielenski J., Markiewicz D., Bozon D., Gazit E., Yahav J., et al. Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci USA 87 (1990) 8447-8451
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 8447-8451
-
-
Kerem, B.S.1
Zielenski, J.2
Markiewicz, D.3
Bozon, D.4
Gazit, E.5
Yahav, J.6
-
10
-
-
33644852838
-
A nonsense mutation of PEPD in four Amish children with prolidase deficiency
-
Wang H., Kurien B.T., Lundgren D., Patel N.C., Kaufman K.M., et al. A nonsense mutation of PEPD in four Amish children with prolidase deficiency. Am J Med Genet 140A (2006) 580-585
-
(2006)
Am J Med Genet
, vol.140 A
, pp. 580-585
-
-
Wang, H.1
Kurien, B.T.2
Lundgren, D.3
Patel, N.C.4
Kaufman, K.M.5
-
11
-
-
18144413918
-
Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis
-
Groman J.D., Karczeski M., Sheridan M., Robinson T., Fallin M., et al. Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis. J Pediatr 146 (2005) 675-680
-
(2005)
J Pediatr
, vol.146
, pp. 675-680
-
-
Groman, J.D.1
Karczeski, M.2
Sheridan, M.3
Robinson, T.4
Fallin, M.5
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