Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Gertrude Kohn"'
Autor:
Ziporah Shlomai, Frida Brok-Simoni, Elimelech Okon, Aaron Polliack, Estella Matutes, Gertrude Kohn, Hannah Ben-Bassat, Nelly Livni, Rachel Leizerowitz, Michael Schlesinger, Valerie Buchier, Rivka Hadar, Ruth Rabinowitz
Publikováno v:
Leukemia & Lymphoma. 6:513-521
Farage, a new cell line established from a lymph node biopsy of a patient with non-Hodgkin's lymphoma (NHL), constitutes a clonal expansion of cells at a distinct stage of B-cell differentiation. The cells lack both T and myeloid surface markers, exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c59843b17a4c43346057faaa25b4e27
https://doi.org/10.3109/10428199209053591
https://doi.org/10.3109/10428199209053591
Publikováno v:
Prenatal Diagnosis. 12:129-131
We report a case in which mosaicism of trisomy 13 was detected in 4/10 cells (40 per cent) in amniotic fluid cell cultures, followed by a low rate of mosaicism (1/160 cells) detected in a fetal blood sample. This finding presents a dilemma both for t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee2e6c247c5c7056ec627ad0aedfd582
https://doi.org/10.1002/pd.1970120208
https://doi.org/10.1002/pd.1970120208
Autor:
Ilana Nissenkorn, Raphael Weitz, Gertrude Kohn, Eitan Ben-David, Israel Kramer, Yehuda Shapira
Publikováno v:
Braindevelopment. 12(5)
A 15-month-old boy, thought to have a congenital myopathy, was subsequently diagnosed as having mucolipidosis type IV, with typical membranous inclusions in muscle fibers. Involvement of skeletal muscle in this lysosomal storage disease may explain t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d20f06a7e70d9e552898779b78ea7e
https://pubmed.ncbi.nlm.nih.gov/2288386
https://pubmed.ncbi.nlm.nih.gov/2288386
Publikováno v:
American Journal of Obstetrics and Gynecology. 167:766-767
We report three cases in which triploidy (69,XXX) was detected by amniocentesis performed for very low maternal serum human chorionic gonadotropin levels. All three cases also had low maternal serum unconjugated estriol levels. We suggest placental i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0d2152a184f01b016fce229b42e11d4e
https://doi.org/10.1016/s0002-9378(11)91586-5
https://doi.org/10.1016/s0002-9378(11)91586-5
Publikováno v:
American Journal of Obstetrics and Gynecology. 168:1641
REFERENCES 1. Allen MH, Chavkin W, Marinoff J. Ascertainment of maternal deaths in New York City. Am] Public Health 1991'81: 380-2. ' 2. Helton AS, McFarlane ], Anderson ET. Battered and pregnant: a prevalence study. Am] Public Health 1987· 77: 1337
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2b02c668e8fdd70952211bb2e73fa1a0
https://doi.org/10.1016/s0002-9378(11)90812-6
https://doi.org/10.1016/s0002-9378(11)90812-6
Autor:
Aviva Litwin, Salomon H. Reisner, Gertrude Kohn, James F. Reynolds, John M. Opitz, Paul Merlob, Mariasa Bath‐Miriam Katznelson, Ilana Nissenkorn
Publikováno v:
American Journal of Medical Genetics. 32:22-26
We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,−1, + der(1),t(1;4) (q44;q23 or 24)mat. She is the first patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::576d4d778e547cb61883dd61be51efc8
https://doi.org/10.1002/ajmg.1320320106
https://doi.org/10.1002/ajmg.1320320106
Publikováno v:
Enzyme. 32:126-130
I-cell fibroblasts can accumulate cystine at levels comparable to those seen in homozygous cystinotic fibroblasts. Cystine accumulation in cystinosis is accounted for cystine clearance defect in situ. To unravel the question whether the same clearanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c2a419fd6bb1f6c3ae379d68081460
https://doi.org/10.1159/000469462
https://doi.org/10.1159/000469462
Publikováno v:
American Journal of Medical Genetics. 2:167-173
Two cases of chromosomal mosaicism were prenatally diagnosed and confirmed in tissues cultured from subsequently aborted fetuses. In both cases a small marker chromosome was observed which proved de novo in origin, since parental chromosomes were nor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27e6dba464fe9f8c0aa1f09867126a73
https://doi.org/10.1002/ajmg.1320020208
https://doi.org/10.1002/ajmg.1320020208