Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Mary Anne Berg"'
Publikováno v:
Human Mutation. 16:323-333
Growth hormone insensitivity syndrome (GHIS; also known as Laron syndrome), is characterized by severe postnatal growth failure and normal growth hormone. The syndrome is frequently caused by point mutations in the growth hormone receptor gene (GHR).
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3270b440eb592bd06c086768630d726
https://doi.org/10.1002/1098-1004(200010)16:4<323::aid-humu5>3.0.co
https://doi.org/10.1002/1098-1004(200010)16:4<323::aid-humu5>3.0.co
Autor:
N. Esposito, Mitchell E. Geffner, Marie-Catherine Postel-Vinay, Edward O. Reiter, Mary Anne Berg, Jérôme Wojcik, Steven K. Dower, Joëlle Finidori, Nadia Sakati, Uta Francke
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 83:4481-4489
We have analyzed the GH receptor (GHR) gene in four individuals with Laron syndrome, and a missense mutation was identified for each patient in the extracellular domain of the GHR (D152H, I153T, Q154P, and V155G). The D152H mutation was previously re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4c77bb8455ffee046bf1a07970eeb671
https://doi.org/10.1210/jcem.83.12.5357
https://doi.org/10.1210/jcem.83.12.5357
Autor:
Shrawan Kumar, Bradley G. Schaefer, Michael D. Weston, Henri A. M. Marres, Cor W. R. J. Cremers, Mary Anne Berg, William J. Kimberling
Publikováno v:
Human Mutation. 11:443-449
The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8eb7807a2b3636b7d4c6f3b891fa5cbb
https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1998)11:6<443::aid-humu4>3.0.co
Autor:
Uta Francke, Mary Anne Berg
Publikováno v:
Acta Paediatrica. 82:3-7
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae81cd07c49161e8204c6dead683689
https://doi.org/10.1111/j.1651-2227.1993.tb12916.x
https://doi.org/10.1111/j.1651-2227.1993.tb12916.x
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 83:2373-2375
Heterozygosity for certain mutations of the GH receptor (GHR) gene has been proposed as the cause of partial resistance to GH, and there has been a recent demonstration of a dominant-negative effect of such a mutation in a mother and child. To examin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::809f6734a08d22dec32cf6587a9b366b
https://doi.org/10.1210/jcem.83.7.4972
https://doi.org/10.1210/jcem.83.7.4972
Autor:
Shrawan Kumar, William J. Kimberling, Michael D. Weston, Bradley G. Schaefer, Mary Anne Berg, Henri A.M. Marres, Cor W.R.J. Cremers
Publikováno v:
Human Mutation, 11, 443-449
Human Mutation, 11, pp. 443-449
Human Mutation, 11, pp. 443-449
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3201911d1552e1f7065d913b6d90469
https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.3.CO
https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<443::AID-HUMU4>3.3.CO
Autor:
Shivanand R. Patil, Edwin M. Stone, Mary Ella M Pierpont, Val C. Sheffield, Ronald M. Lauer, Darryl Y. Nishimura, Trudy L. Burns, Mary Anne Berg, John S. Beck
Publikováno v:
Human molecular genetics. 6(1)
The identification of genetic loci involved in most forms of congenital heart disease has been hampered by the complex inheritance patterns of these disorders. Atrioventricular canal defects (AVCDs) are most commonly associated with Down syndrome, al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a94c0fb88f38662548ae8705a866cec2
https://pubmed.ncbi.nlm.nih.gov/9002679
https://pubmed.ncbi.nlm.nih.gov/9002679
Autor:
Mary Anne Berg, Uta Francke, T. N. Volkova, V.F. Skorobogatova, Arlan L. Rosenbloom, E. P. Kasatkina, V. N. Sokolovskaya
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 8(3)
Primary GH insensitivity (Laron syndrome) due to GH receptor deficiency (GHRD) is an autosomal recessive condition characterized by severe growth failure. Diverse alterations in the GHR gene have been reported in affected individuals. We report here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d602b15eb9f4dae630c1fc9176e0d4
https://pubmed.ncbi.nlm.nih.gov/8521189
https://pubmed.ncbi.nlm.nih.gov/8521189
Autor:
Luis Perez-Jurado, Mary Anne Berg, Zvi Laron, R. D. G. Milner, Uta Francke, Arlan L. Rosenbloom, Risa Peoples, Jaime Guevara-Aguirre
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). Supplement. 399
Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inherited GH receptor deficiency (GHRD; Laron syndrome) from five continents. All the mutations are located in the extracellular domain of the receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60fe73f8e33c1c3ddf1dab47bb9fe06a
https://pubmed.ncbi.nlm.nih.gov/7949594
https://pubmed.ncbi.nlm.nih.gov/7949594
Publikováno v:
Human mutation. 1(1)
Laron syndrome is an autosomal recessive condition characterized by resistance to growth hormone. We sought to determine the molecular basis of this condition in an Ecuadorean population with a high incidence of affected individuals. Growth hormone r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3d30e669e9bc35eeb14753174627aca
https://pubmed.ncbi.nlm.nih.gov/1284474
https://pubmed.ncbi.nlm.nih.gov/1284474