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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1967 1
1970 1
1973 1
1974 2
1975 1
1976 2
1978 2
1979 1
1985 2
1986 1
1988 1
1989 1
1991 1
1992 3
1993 4
1994 1
1995 4
1996 1
1997 1
1998 5
1999 4
2000 4
2001 5
2002 5
2003 3
2004 3
2005 8
2006 6
2007 1
2008 2
2009 1
2010 2
2011 5
2012 4
2013 5
2014 5
2015 4
2016 5
2017 4
2018 8
2019 4
2020 3
2021 6
2022 8
2023 4
2024 0

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135 results

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Page 1
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. McDonald-McGinn DM, et al. Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. Nat Rev Dis Primers. 2015. PMID: 27189754 Free PMC article. Review.
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and con …
The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made i …
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
Burnside RD. Burnside RD. Cytogenet Genome Res. 2015;146(2):89-99. doi: 10.1159/000438708. Epub 2015 Aug 8. Cytogenet Genome Res. 2015. PMID: 26278718 Free article. Review.
Individuals with deletions tend to have features with widely variable expressivity, even among families. This review concisely delineates each interval and classifies the reported literature accordingly....
Individuals with deletions tend to have features with widely variable expressivity, even among families. This review concisely deline …
Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Óskarsdóttir S, et al. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006. Epub 2023 Feb 2. Genet Med. 2023. PMID: 36729053 Free article. Review.
The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literatu …
The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited exp …
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as the parathyroid glands and the kidneys and signals via G proteins and beta-arrestin. ...The importance of the CaSR for these calcitropic pro …
The Ca(2+)-sensing receptor (CaSR) is a dimeric family C G protein-coupled receptor that is expressed in calcitropic tissues such as …
Rickets, Vitamin D, and Ca/P Metabolism.
Miller WL, Imel EA. Miller WL, et al. Horm Res Paediatr. 2022;95(6):579-592. doi: 10.1159/000527011. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446330 Free article. Review.
Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear that only a small fragment of PTH conveyed its activity. Congenital hypoparathyroidism with immune defects was described in 1968, event …
Collip (of insulin fame) identified PTH by its ability to correct tetany in parathyroidectomized dogs, but only in the 1970s was it clear th …
Hypocalcemia: updates in diagnosis and management for primary care.
Fong J, Khan A. Fong J, et al. Can Fam Physician. 2012 Feb;58(2):158-62. Can Fam Physician. 2012. PMID: 22439169 Free PMC article. Review.
OBJECTIVE: To provide family physicians with an evidence-based approach to the diagnosis and management of hypocalcemia. ...Complications of current therapies for hypoparathyroidism include hypercalciuria, nephrocalcinosis, renal impairment, and soft tissue calcific …
OBJECTIVE: To provide family physicians with an evidence-based approach to the diagnosis and management of hypocalcemia. ...Complicat …
Autoimmune endocrine diseases.
Ruggeri RM, Giuffrida G, Campennì A. Ruggeri RM, et al. Minerva Endocrinol. 2018 Sep;43(3):305-322. doi: 10.23736/S0391-1977.17.02757-2. Epub 2017 Oct 9. Minerva Endocrinol. 2018. PMID: 28990742 Review.
Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophysitis, adrenalitis (90% of cases of primary hypocortisolism or Addison's disease), POF and hypoparathyroidism represent quite rare con …
Hashimoto's thyroiditis and Graves' disease) and type 1 diabetes mellitus are the most common autoimmune endocrine disorders, while hypophys …
Barakat syndrome revisited.
Barakat AJ, Raygada M, Rennert OM. Barakat AJ, et al. Am J Med Genet A. 2018 Jun;176(6):1341-1348. doi: 10.1002/ajmg.a.38693. Epub 2018 Apr 16. Am J Med Genet A. 2018. PMID: 29663634 Review.
It is a rare genetic disorder characterized by the triad of hypoparathyroidism "H," sensorineural deafness "D," and renal disease "R." ...We suggest that the diagnosis could be confirmed in patients who have all three components, and in those who have two components with a …
It is a rare genetic disorder characterized by the triad of hypoparathyroidism "H," sensorineural deafness "D," and renal disease "R. …
Parathyroid disorders.
Michels TC, Kelly KM. Michels TC, et al. Am Fam Physician. 2013 Aug 15;88(4):249-57. Am Fam Physician. 2013. PMID: 23944728 Free article. Review.
Patients with chronic kidney disease may develop secondary hyperparathyroidism with resultant chronic kidney disease-mineral and bone disorder. Hypoparathyroidism most often occurs after neck surgery; it can also be caused by autoimmune destruction of the glands and other …
Patients with chronic kidney disease may develop secondary hyperparathyroidism with resultant chronic kidney disease-mineral and bone disord …
Diseases associated with calcium-sensing receptor.
Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. Vahe C, et al. Orphanet J Rare Dis. 2017 Jan 25;12(1):19. doi: 10.1186/s13023-017-0570-z. Orphanet J Rare Dis. 2017. PMID: 28122587 Free PMC article. Review.
Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism). ...The dif …
Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial beni …
135 results