المؤلفون: Padeira, G, Cavaco, BM, Virella, D, Sá-Couto, H, Lopes, ML

مصطلحات موضوعية: Genetic Diseases, Inborn, Hypercalcemia/diagnosis, Hypercalcemia/genetics, Hyperparathyroidism/diagnosis, Hyperparathyroidism/ genetics, Parathyroid Hormone, Receptors, Calcium- Sensing/genetics, Treatment Outcome, HDE UCI NEO, HDE END PED, HDE CIR PED

Relation: Port J Pediatr 2022;53:440-6; http://hdl.handle.net/10400.17/4281

الاتاحة: http://hdl.handle.net/10400.17/4281

المؤلفون: Gonçalo Padeira, Branca M. Cavaco, Daniel Virella, Henrique Sá Couto, Maria de Lurdes Afonso-Lopes

المصدر: Portuguese Journal of Pediatrics; Vol. 53 No. 1 (2022)
Portuguese Journal of Pediatrics; Vol. 53 N.º 1 (2022)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 53, Iss 1 (2022)

مصطلحات موضوعية: Medicine (General), Genetic Diseases, Inborn, Hypercalcemia/genetics, Hyperparathyroidism/diagnosis, Pediatrics, RJ1-570, HDE UCI NEO, R5-920, Treatment Outcome, HDE END PED, HDE CIR PED, Hyperparathyroidism/ genetics, Parathyroid Hormone, Hypercalcemia/diagnosis, Receptors, Calcium- Sensing/genetics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bbdddc4c679909a4a730bb430a4a5f
https://hdl.handle.net/10400.17/4281

المؤلفون: Friis, I M, Larsen, N E, Lillquist, K, Schwarz, P

المصدر: Ugeskrift for Laeger. 162(33):4402

المؤلفون: Teh, B. T., Kytola, S., Farnebo, F., Bergman, L., Wong, F. K., Weber, Géraldine, Hayward, N., Larsson, C., Skogseid, B., Beckers, Albert, Phelan, C., Edwards, M., Epstein, M., Alford, F., Hurley, D., Grimmond, S., Silins, G., Walters, M., Stewart, C., Cardinal, J., Khodaei, S., Parente, F., Tranebjaerg, L., Jorde, R., Menon, J., Khir, A., Tan, T. T., Chan, S., Zaini, A., Khalid, B., Sandelin, K., Thompson, N., Brandi, M.-L., Warth, M., Stock, J., Leisti, J., Cameron, D., Shepherd, J. J., Obert, K., Nordenskjöld, M., Salmela, P.

المصدر: Journal of Clinical Endocrinology and Metabolism, 83 (8), 2621-2626 (1998)

مصطلحات موضوعية: Acromegaly/genetics, DNA Mutational Analysis, Female, Frameshift Mutation, Gene Deletion, Genetic Markers, Genotype, Haplotypes, Humans, Hyperparathyroidism/genetics, Lod Score, Male, Multiple Endocrine Neoplasia Type 1/genetics, Pedigree, Polymorphism, Genetic, Single-Stranded Conformational, RNA Splicing, Sequence Analysis, DNA, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

Relation: urn:issn:0021-972X; urn:issn:1945-7197; https://orbi.uliege.be/handle/2268/64099; info:hdl:2268/64099; https://orbi.uliege.be/bitstream/2268/64099/1/Mutation%20analysis%20of%20the%20MEN1%20gene%20in%20multiple%20endocrine%20neoplasia%20type%201%2c%20familial%20acromegaly%20and%20familial%20isolated%20hyperparathyroidism.pdf; info:pmid:9709921

الاتاحة: https://orbi.uliege.be/handle/2268/64099
https://orbi.uliege.be/bitstream/2268/64099/1/Mutation%20analysis%20of%20the%20MEN1%20gene%20in%20multiple%20endocrine%20neoplasia%20type%201%2c%20familial%20acromegaly%20and%20familial%20isolated%20hyperparathyroidism.pdf
https://doi.org/10.1210/jc.83.8.2621

المؤلفون: Skogseid, B, Rastad, J, Oberg, K

المصدر: Endocrinol Metab Clin North Am. 23(1):1-18

مصطلحات موضوعية: Genetic Screening, Humans, Hyperparathyroidism/genetics, Multiple Endocrine Neoplasia/*genetics, Pancreatic Neoplasms/genetics, Pituitary Neoplasms/genetics, Syndrome

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-26203
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=7913018&dopt=Citation

المؤلفون: Newey, Paul J., Bowl, Michael R., Cranston, Treena, Thakker, Rajesh V.

المصدر: Newey , P J , Bowl , M R , Cranston , T & Thakker , R V 2010 , ' Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors ' , Human Mutation , vol. 31 , no. 3 , pp. 295-307 . https://doi.org/10.1002/humu.21188

مصطلحات موضوعية: Amino Acid Sequence, Gene Expression Regulation, Neoplastic, Humans, Hyperparathyroidism/genetics, Mandible/pathology, Maxilla/pathology, Molecular Sequence Data, Mutation, Nuclear Proteins/metabolism, Parathyroid Neoplasms/genetics, RNA Polymerase II/metabolism, Sequence Homology, Amino Acid, Syndrome, Tumor Suppressor Proteins/genetics, beta Catenin/metabolism

Relation: https://discovery.dundee.ac.uk/en/publications/c24f21a5-d694-4884-a9d5-293090669044

الاتاحة: https://discovery.dundee.ac.uk/en/publications/c24f21a5-d694-4884-a9d5-293090669044
https://doi.org/10.1002/humu.21188

المؤلفون: Newey, P. J., Bowl, M. R., Thakker, R. V.

المصدر: Newey , P J , Bowl , M R & Thakker , R V 2009 , ' Parafibromin-functional insights ' , Journal of Internal Medicine , vol. 266 , no. 1 , pp. 84-98 . https://doi.org/10.1111/j.1365-2796.2009.02107.x

مصطلحات موضوعية: Amino Acid Sequence, Animals, Genetic Predisposition to Disease, Humans, Hyperparathyroidism/genetics, Jaw Neoplasms/genetics, Molecular Sequence Data, Neoplasm Proteins/genetics, Neoplastic Syndromes, Hereditary/genetics, Parathyroid Neoplasms/genetics, Tumor Suppressor Proteins/genetics

Relation: https://discovery.dundee.ac.uk/en/publications/2b52b3f6-34f6-4d8b-81c5-432594c16118

الاتاحة: https://discovery.dundee.ac.uk/en/publications/2b52b3f6-34f6-4d8b-81c5-432594c16118
https://doi.org/10.1111/j.1365-2796.2009.02107.x

المؤلفون: Ma, RCW, So, WY, Tong, PCY, Cockram, CS, Chow, CC, Lam, CW

مصطلحات موضوعية: Aged, 80 And Over, Female, Frameshift Mutation, Humans, Hypercalcemia - Genetics, Hyperparathyroidism - Genetics, Receptors, Calcium-Sensing - Genetics

Relation: Hong Kong Medical Journal; http://www.scopus.com/mlt/select.url?eid=2-s2.0-48749109441&selection=ref&src=s&origin=recordpage; Hong Kong Medical Journal, 2008, v. 14 n. 3, p. 226-228; 228; eid_2-s2.0-48749109441; 226; http://hdl.handle.net/10722/148573; 14

الاتاحة: http://hdl.handle.net/10722/148573

المؤلفون: Warner, James, Nyholt, Dale, Busfield, Frances, Epstein, Martin, Burgess, John, Stranks, Steve, Hill, Preston, Perry-Keene, Donald, Learoyd, Diana, Robinson, Bruce, other, and

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Chromosomes, Chromosome Mapping, DNA/genetics, Family, Female, Genome, Human, Humans, Hyperparathyroidism/*genetics, Male, Pair 2

Relation: Warner, James, Nyholt, Dale, Busfield, Frances, Epstein, Martin, Burgess, John, Stranks, Steve, Hill, Preston, Perry-Keene, Donald, Learoyd, Diana, Robinson, Bruce, & other, and (2006) Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. Journal of Medical Genetics, 43(3), pp. 12-18.; https://eprints.qut.edu.au/92152/; Faculty of Health; Institute of Health and Biomedical Innovation

الاتاحة: https://eprints.qut.edu.au/92152/

المؤلفون: Erben, Reinhold G., Soegiarto, Desi W., Weber, Karin, Zeitz, Ute, Lieberherr, Michele, Gniadecki, Robert, Moller, Gabriele, Adamski, Jerzy, Balling, Rudi

المصدر: Molecular Endocrinology, 16 (7), 1524-37 (2002)

مصطلحات موضوعية: 24,25-Dihydroxyvitamin D 3/pharmacology, Alopecia/genetics, Animals, Binding Sites, Calcitriol/pharmacology, Calcium/metabolism/pharmacology, DNA/metabolism, Diet, Female, Gene Expression Regulation, Growth Disorders/genetics, Homeostasis/drug effects, Homozygote, Hyperparathyroidism/genetics, Kidney/drug effects/metabolism, Male, Mice, Mutant Strains, Receptors, Calcitriol/drug effects/genetics/metabolism, Rickets/genetics, Sequence Deletion, Zinc Fingers, beta-Galactosidase/genetics/metabolism, Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: urn:issn:0888-8809; https://orbilu.uni.lu/handle/10993/2670; info:hdl:10993/2670; info:pmid:12089348; wos:000176630900008

الاتاحة: https://orbilu.uni.lu/handle/10993/2670
https://doi.org/10.1210/mend.16.7.0866

المؤلفون: Farnebo, Filip

المصدر: Abstract.

مصطلحات موضوعية: Hyperparathyroidism: genetics.

الاتاحة: http://diss.kib.ki.se/search/diss.se.cfm?19981009farn

المؤلفون: Correa, P, Szabo, E, Lundgren, E, Carling, T

المصدر: Läkartidningen. 98(18):2198