Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Eva Gross-Kieselstein"'
Autor:
Tzipora C. Falik Zaccai, Limor Kalfon, Aharon Klar, Mordechai Ben Elisha, Haggit Hurvitz, Galina Weingarten, Emelia Chechik, Vered Fleisher Sheffer, Raid Haj Yahya, Gal Meidan, Eva Gross‐Kieselstein, Dvora Bauman, Sylvia Hershkovitz, Yuval Yaron, Avi Orr‐Urtreger, Efrat Wertheimer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 64-72 (2014)
Abstract Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic f
Externí odkaz:
https://doaj.org/article/039df10551044c4eb1c6ec8e2471ca8a
Autor:
Dvora Bauman, Tzipora C. Falik Zaccai, Sylvia Hershkovitz, Raid Haj Yahya, Mordechai Ben Elisha, Haggit Hurvitz, Gal Meidan, Eva Gross-Kieselstein, Avi Orr-Urtreger, Aharon Klar, Vered Fleisher Sheffer, Emelia Chechik, Galina Weingarten, Limor Kalfon, Yuval Yaron, Efrat Wertheimer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 64-72 (2014)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bf2a26a74ca0d3f49087996763ae013
https://doaj.org/article/039df10551044c4eb1c6ec8e2471ca8a
https://doaj.org/article/039df10551044c4eb1c6ec8e2471ca8a
Publikováno v:
Clinical Genetics. 38:382-386
Cardio-facio-cutaneous (CFC) syndrome is a not uncommon syndrome with a characteristic face, mental retardation, abnormal skin and hair and congenital heart disease. We report the 16th case of this syndrome and give details of the spectrum of neurolo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e255c15859ab550deec08db2a19e9b
https://doi.org/10.1111/j.1399-0004.1990.tb03600.x
https://doi.org/10.1111/j.1399-0004.1990.tb03600.x
Autor:
R. S. Shalev, Eva Gross-Kieselstein
Publikováno v:
Clinical Genetics. 32:145-147
Two brothers with congenital absence of the trapezius, pectoralis, supraspinatus and serratus anterior are reported and the relevant literature reviewed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9780a11d11fbbd28ed97ccd7e4acc347
https://doi.org/10.1111/j.1399-0004.1987.tb03344.x
https://doi.org/10.1111/j.1399-0004.1987.tb03344.x
Autor:
Eva Gross-Kieselstein, Yaakov Berkun, Aharon Klar, David Shoseyov, Jacques Braun, Shoshana Revel-Vilk, Moise Jonathan, Haggit Hurvitz, Gila Shazberg, Abraham Brand
Publikováno v:
Journal of pediatric gastroenterology and nutrition. 37(2)
BACKGROUND Intestinal protein loss has been reported mainly in diseases affecting the gastrointestinal tract. Intestinal protein loss during pneumonia with effusion has not been reported to date. The authors attempted to assess the associations betwe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5fce79a3b77f947cea4e5914b111da36
https://pubmed.ncbi.nlm.nih.gov/12883295
https://pubmed.ncbi.nlm.nih.gov/12883295
Autor:
Yehuda Har‐Even, Eva Gross-Kieselstein
Publikováno v:
Clinical Genetics. 35:467-468
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::19554f5bb9bc59b99c7d68aa7be52cf8
https://doi.org/10.1111/j.1399-0004.1989.tb02974.x
https://doi.org/10.1111/j.1399-0004.1989.tb02974.x
Publikováno v:
Journal of Pediatric Gastroenterology and Nutrition. 3:672-675
Diarrhea is one of the important clinical symptoms in patients suffering from celiac disease and is attributed mainly to malabsorption. We determined prostanoid content in small intestinal mucosa of five patients with active celiac disease and in a c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4637b015ac01577d490924b94e631236
https://doi.org/10.1097/00005176-198411000-00005
https://doi.org/10.1097/00005176-198411000-00005
Publikováno v:
Pediatrics. 47:1069-1073
A case of acute and severe thyrotoxicosis (without goiter and exophthalmos) in a 3-month-old male infant is reported. The case is unusual because of (1) the extreme rarity of the condition below the age of 6 months, and (2) the presence of features c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12c931903935c0dff3fd97ebc067cb9c
https://doi.org/10.1542/peds.47.6.1069
https://doi.org/10.1542/peds.47.6.1069
Publikováno v:
Pediatrics. 47:1064-1067
Freeman and Sheldon syndrome known as "cranio-carpo-tarsal displasia" or "Whistling face" deformity is described in a mother and daughter. The inheritance suggests an autosomal dominant trait.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f8fdee7c162e0e34871f7076a461505
https://doi.org/10.1542/peds.47.6.1064
https://doi.org/10.1542/peds.47.6.1064
Autor:
Gila Shazberg, William A. Gahl, Yair Anikster, Yackov Berkun, Haggit Hurvitz, Paul D. Anderson, Eva Gross-Kieselstein, Marjan Huizing, Aharon Klar, Diana L. Fitzpatrick
Publikováno v:
The American Journal of Human Genetics. (2):407-414
Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ea5b2c93d9c7ff5ca2891fa1cc6c7f9