Zobrazeno 1 - 10
of 1 656
pro vyhledávání: '"A B, Kanis"'
Autor:
Ruti Parvari, Alla Shnaider, Leonid Katchko, Adam B. Kanis, Daniel Landau, Anna Basok, Zvi Borochovich
Publikováno v:
American Journal of Medical Genetics. 99:204-209
Autosomal dominant familial nephropathies with adult onset, no macroscopic cysts, and progressive deterioration include medullary cystic disease (ADMCKD) as well as other less specific entities. We studied a kindred of Jewish ancestry in which 15 mem
Autor:
Edwin M. Stone, Christine M. Taylor, Adam B. Kanis, Ali A. Al-Rajhi, Darryl Y. Nishimura, Val C. Sheffield, Robert Folberg, William D. Mathers
Publikováno v:
Ophthalmic Genetics. 20:243-249
Congenital hereditary endothelial dystrophy (CHED) is a disorder of the corneal endothelium and has been recognized to segregate in families with both autosomal dominant (AD) and autosomal recessive (AR) modes of transmission. AD-CHED has been previo
Autor:
Allyn L. Mark, Gretel Beck, Nancy A. Kramer, Michael R. Garrett, Adam B. Kanis, Roxanne Y. Walder, Ann McClain, Val C. Sheffield, John P. Rapp, Theresa M. H. Brennan
Publikováno v:
Mammalian Genome. 9:1013-1021
In an effort to generate a genome-wide set of high-quality polymorphic markers for the rat, we used the marker-selection method, which has already been proven useful for the development of markers, especially for the human genome. Small-insert (300-9
Autor:
D. K. Yankowitz, A. B. Kanis, Jerome Yankowitz, Roger A. Williamson, Asha Rijhsinghani, G. M. Mueller
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 12:103-106
Objective There are no studies to date on the implications and outcomes of antenatally detected isolated club foot. The purpose of this study was to perform a contemporary evaluation of club foot diagnosed in the antenatal period. Design We performed
Autor:
Ruti Parvari, Eli Hershkovitz, Rivka Carmi, Val C. Sheffield, Rafael Gorodischer, Shlomit Shalitin, Adam B. Kanis
Publikováno v:
The American Journal of Human Genetics. 63(1):163-169
The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, w
Autor:
Adam B. Kanis, Ruth E. Swiderski, Darryl Y. Nishimura, Shivanand R. Patil, Val C. Sheffield, Steven R. Bennet, Julie M. Gastier, Wallace L.M. Alward, Charles Searby, Edwin M. Stone
Publikováno v:
Nature Genetics. 19:140-147
A number of different eye disorders with the presence of early-onset glaucoma as a component of the phenotype have been mapped to human chromosome 6p25. These disorders have been postulated to be either allelic to each other or associated with a clus
Autor:
Val C. Sheffield, Joel Zlotogora, Robert G. Knowlton, Nancy C. Arbour, Edwin M. Stone, Adam B. Kanis, Saul Merin, Tatiana Rokhlina, Ada Rosenmann
Publikováno v:
Human Molecular Genetics. 6:689-694
Achromatopsia is an autosomal recessive disease of the retina, characterized clinically by an inability to distinguish colors, impaired visual acuity, nystagmus and photophobia. A genome-wide search for linkage was performed using an inbred Jewish ki
Publikováno v:
Prenatal Diagnosis. 16:173-179
We present the prenatal ultrasound findings in a case of hydrolethalus. This case illustrates ongoing problems in differentiating hydrolethalus, both pre- and postnatally, from other midline malformation syndromes including Pallister-Hall, Smith-Leml
Autor:
El-Beshlawy, Amal1 (AUTHOR), Tantawy, Azza A. G.2 (AUTHOR) azatantawy@hotmail.com, Shawky, Rabah M.2 (AUTHOR), Elsayed, Solaf M.3 (AUTHOR), Marzouk, Iman M.4 (AUTHOR), Elgawhary, S.5 (AUTHOR), Abdelghaffar, Hadeer6 (AUTHOR), Safy, Usama El7 (AUTHOR), Eid, Khaled1 (AUTHOR), EISayh, Khalid I.8 (AUTHOR), Megahed, Ahmed9 (AUTHOR), Adly, Amira2 (AUTHOR), Sherif, Eman M.2 (AUTHOR), Youssef, Mervat A. M.8 (AUTHOR), Fathy, Manar Mohamed7 (AUTHOR), Salah, Nouran Yousef2 (AUTHOR), Elzeiny, Sherine M.9 (AUTHOR), EI Bakky, Eslam Rabie Abdel Aziz6 (AUTHOR), Fateen, Ekram10 (AUTHOR)
Publikováno v:
Egyptian Journal of Medical Human Genetics. 7/31/2024, Vol. 25 Issue 1, p1-16. 16p.
Autor:
Que, Zhiqiang1, Lin, Yilong2, Chen, Dingqiang1,3, Xiao, Keyi1,3, Xu, Wenbin1, Sun, Naikun1,3 sunwenze6@163.com, Yang, Qingmo2,3 yqm8383@163.com, Rui, Gang1,3 reigang@163.com
Publikováno v:
Journal of Orthopaedic Surgery & Research. 7/9/2024, Vol. 19 Issue 1, p1-10. 10p.