Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Hanna Dar"'
Autor:
Hanna Dar, Hormoz Esmailzadeh, Avi Orr-Urtreger, Ziva Ben-Neriah, Bella Davidov, Dorit Lev, Boleslaw Goldman, Orit Reish, Mordechai Shohat, Gad Barkai, Helena Frimer, Zully Gelman-Kohen, Vered Shohat-Levy, Ruth Gershoni, Esther Manor, Zvi Appelman, Aliza Amiel, Stavit A. Shalev
Publikováno v:
Scopus-Elsevier
Second trimester maternal serum biochemical markers, introduced between 1990 and 1995, were supplemented with new ultrasound methods at 14-16 weeks and first trimester biochemical markers between 1995 and 2000. This study evaluated the effectiveness
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fce0331642d902724fe14a345f8f23
https://doi.org/10.1002/ajmg.a.20246
https://doi.org/10.1002/ajmg.a.20246
Publikováno v:
American Journal of Medical Genetics. 61:154-157
The study comprised 2,361 women, each with two consecutive normal uncomplicated pregnancies screened at 15-20 weeks gestation for maternal serum alpha-fetoprotein levels (AFP). In 1,816 of these women, maternal serum human chorionic gonadotropin (hCG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::105d94815aefbd85c77767154867059e
https://doi.org/10.1002/(sici)1096-8628(19960111)61:2<154::aid-ajmg10>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960111)61:2<154::aid-ajmg10>3.0.co
Publikováno v:
American Journal of Medical Genetics. 43:678-685
Five unrelated patients (a male and 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which has been designated the facio-cutaneous-skeletal (FCS) syndrome and which includes mental retarda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::415840563bdb40a245a4bdb50df2784d
https://doi.org/10.1002/ajmg.1320430405
https://doi.org/10.1002/ajmg.1320430405
Autor:
Arieh Riskin, Olaf Hiort, Zvi Leibovitz, Marta Grun, Ilana Koren, David Bader, Hanna Dar, Amir Kugelman
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 19
The diagnosis of androgen insensitivity syndrome (AIS) can now be made prenatally. We present a patient for whom the diagnosis of AIS was highly suspected prenatally, but the parents preferred to deny it. The clinical findings and the diagnostic eval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ed08778d3760abf5001bd53aa8e712f
https://doi.org/10.1515/jpem.2006.19.12.1437
https://doi.org/10.1515/jpem.2006.19.12.1437
Publikováno v:
American Journal of Medical Genetics. 62:345-347
We report on a 2-year-old child with psychomotor retardation, facial and urogenital anomalies. His chromosome constitution was 46,XY, del(6)(q13q15). This case further contributes to the karyotype-phenotype correlation of proximal deletion 6q syndrom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a62176714421609e573332fd0925e065
https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<345::aid-ajmg4>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960424)62:4<345::aid-ajmg4>3.0.co
Autor:
David Bader, R Merksamer, N. Israel, O. Vafsi, Arieh Riskin, Hanna Dar, Ada Tamir, Miriam David, B. Peskin
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 349(1-2)
Background Alpha-fetoprotein (AFP) is a glycoprotein molecule, which has similarity to albumin and is produced by the fetal liver. Its biological role is unclear and factors that may influence its concentrations in neonates are only partially identif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38fee7b3d7e30b4bb5acb5b96296c946
https://pubmed.ncbi.nlm.nih.gov/15469851
https://pubmed.ncbi.nlm.nih.gov/15469851
Publikováno v:
Journal of child neurology. 12(5)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7573fd054aee796066696de24b54cb8
https://pubmed.ncbi.nlm.nih.gov/9378903
https://pubmed.ncbi.nlm.nih.gov/9378903
Autor:
Tamy Zer, Ziva Ben-Neriah, Boleslaw Goldman, Edna Akstein, Aliza Amiel, Cyril Legum, Hanna Dar, Mordechai Shohat, Gad Barkai, Juan Chemke, Yitzhak Romem, Pnina Zadka, Hana Cohen, Zvi Appelman, Ruth Sheffer, Gideon Bach, Miriam David, Bella Davidov
Publikováno v:
Prenatal diagnosis. 15(10)
We investigated the contribution of different screening criteria to the prenatal detection of Down syndrome (DS) as well as other chromosomal anomalies in the Jewish population in Israel during 1990 and 1992. There was a significant decrease (P0.03)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95cb707b505314f21ac3945c37f43779
https://pubmed.ncbi.nlm.nih.gov/8587865
https://pubmed.ncbi.nlm.nih.gov/8587865
Publikováno v:
American journal of medical genetics. 55(2)
The report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is segregating. The fragile site is present in the mother and her son. It is expressed spontaneously in 100% of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2437e2a6f454fe0a8c209da8244d790
https://pubmed.ncbi.nlm.nih.gov/7717412
https://pubmed.ncbi.nlm.nih.gov/7717412
Publikováno v:
Genetic Testing. 7:345-346
We report herein two cases where detection of X chromosome aneuploidy (cytogenetically proved 45,X/46XX and 47,XXX) was made possible by molecular diagnosis during population-based carrier screening for Fragile X syndrome, using Southern blot analysi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0f8ff901be7b71e5c88cf137d82717
https://doi.org/10.1089/109065703322783734
https://doi.org/10.1089/109065703322783734