Zobrazeno 1 - 10
of 10
pro vyhledávání: '"K G, Monaghan"'
Autor:
J S, Cohen, S, Srivastava, K D, Farwell Hagman, D N, Shinde, R, Huether, D, Darcy, R, Wallerstein, G, Houge, S, Berland, K G, Monaghan, A, Poretti, A L, Wilson, W K, Chung, A, Fatemi
Publikováno v:
Clinical genetics. 91(5)
Identification of rare genetic variants in patients with intellectual disability (ID) has been greatly accelerated by advances in next generation sequencing technologies. However, due to small numbers of patients, the complete phenotypic spectrum ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9f97409a98782f01a67bab305a97b794
https://pubmed.ncbi.nlm.nih.gov/27598823
https://pubmed.ncbi.nlm.nih.gov/27598823
Autor:
Gerald L. Feldman, K. G. Monaghan
Publikováno v:
Prenatal Diagnosis. 19:604-609
Fetal echogenic bowel has been reported as a normal variant in the second trimester, and has also been associated with an adverse fetal outcome, including cystic fibrosis (CF), an autosomal recessive genetic disease. Previous studies have reported th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21932d37f026334e8b55864a11d6d972
https://doi.org/10.1002/(sici)1097-0223(199907)19:7<604::aid-pd593>3.0.co
https://doi.org/10.1002/(sici)1097-0223(199907)19:7<604::aid-pd593>3.0.co
Publikováno v:
American journal of medical genetics. 95(4)
More than 900 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been reported to the cystic fibrosis (CF) consortium. A missense mutation, S1235R, was originally reported in a CF patient with a second mutation (G62
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df817a3f9e67f9f066fca1b1d2907f48
https://pubmed.ncbi.nlm.nih.gov/11186891
https://pubmed.ncbi.nlm.nih.gov/11186891
Publikováno v:
American journal of medical genetics. 94(2)
Cationic trypsinogen and cystic fibrosis mutations have been identified in pancreatitis patients, although no study has looked for mutations in both genes in the same patient. Pancreatitis can be induced by alcohol, although not all alcoholics develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a118bd49a3d88ebb9dc1e09cbcfc51c
https://pubmed.ncbi.nlm.nih.gov/10982968
https://pubmed.ncbi.nlm.nih.gov/10982968
Autor:
K G, Monaghan, G L, Feldman
Publikováno v:
Prenatal diagnosis. 19(7)
Fetal echogenic bowel has been reported as a normal variant in the second trimester, and has also been associated with an adverse fetal outcome, including cystic fibrosis (CF), an autosomal recessive genetic disease. Previous studies have reported th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d0ad94f9d15810070e8beb3be05ff214
https://pubmed.ncbi.nlm.nih.gov/10590441
https://pubmed.ncbi.nlm.nih.gov/10590441
Publikováno v:
American journal of medical genetics. 80(3)
We report on a 24-year old woman with an Xq duplication and findings suggestive of Prader-Willi syndrome (PWS). Her birth weight was at the 3rd centile and her birth length was less than the 3rd centile. She was hypotonic and had a weak cry as an inf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43b7b4b4d3faec478a5621ea47831e8c
https://pubmed.ncbi.nlm.nih.gov/9843044
https://pubmed.ncbi.nlm.nih.gov/9843044
Publikováno v:
American journal of hematology. 58(3)
Homozygosity for the mutation Cys282Tyr in the HFE gene has recently been identified as a cause of hereditary hemochromatosis, a disorder resulting in the inappropriate absorption of iron. Approximately 10% of Caucasians are heterozygous for this mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4ea422b3dd74faa04a5ed69cec734361
https://pubmed.ncbi.nlm.nih.gov/9662273
https://pubmed.ncbi.nlm.nih.gov/9662273
Publikováno v:
American journal of medical genetics. 73(2)
The most commonly reported manifestations of 16q deletions are severe growth and developmental disorders and anomalies of the craniofacial, visceral, and musculoskeletal systems. We reviewed the findings of patients reported with 16q- syndrome and co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cef554150f0076f8a9de74d8d9774310
https://pubmed.ncbi.nlm.nih.gov/9409869
https://pubmed.ncbi.nlm.nih.gov/9409869
Publikováno v:
Archives of pathologylaboratory medicine. 104(4)
Because of the persistence of serum and/or urinary calcitonin in patients with thyroidectomies and the presence of high levels of immunoreactive calcitonin in the pulmonary tissue of primates with intact thyroids and primates on whom thyroidectomies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7c745e69bc159bf691085d1208c0a717
https://pubmed.ncbi.nlm.nih.gov/6987972
https://pubmed.ncbi.nlm.nih.gov/6987972
Autor:
Glenn W. Geelhoed, Kenneth L. Becker, K. G. Monaghan, C. F. Moore, O. L. Silva, R. H. Snider, W. O'Neill
Publikováno v:
Experientia. 36:609-610
Immunochemical studies indicate that immunoreactive calcitonin (iCT) is present in many tissues of monkey following thyroidectomy (thx) (e.g. liver, thymus, lung). Extrathyroidal iCT may play a role in calcium metabolism.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d200dba28e81afd3597589f2f306b649
https://doi.org/10.1007/bf01965831
https://doi.org/10.1007/bf01965831