메뉴 건너뛰기




Volumn 81, Issue 2, 2014, Pages 190-196

Prevalence of hypocalcaemia and its associated features in 22q11·2 deletion syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; MAGNESIUM; PARATHYROID HORMONE;

EID: 84904390815     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12466     Document Type: Article
Times cited : (62)

References (38)
  • 2
    • 0033753819 scopus 로고    scopus 로고
    • The 22q11 deletion syndromes
    • Scambler, P., (2000) The 22q11 deletion syndromes. Human Molecular Genetics, 9, 2421-2426.
    • (2000) Human Molecular Genetics , vol.9 , pp. 2421-2426
    • Scambler, P.1
  • 3
    • 0033652602 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: Update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications
    • Swillen, A., Vogels, A., Devriendt, K., et al,. (2000) Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications. American Journal of Medical Genetics, 97, 128-135.
    • (2000) American Journal of Medical Genetics , vol.97 , pp. 128-135
    • Swillen, A.1    Vogels, A.2    Devriendt, K.3
  • 4
    • 77956998380 scopus 로고    scopus 로고
    • Newborn screening programs: Should 22q11 deletion syndrome be added?
    • Bales, A.M., Zaleski, C.A., &, McPherson, E.W., (2010) Newborn screening programs: should 22q11 deletion syndrome be added? Genetics in Medicine, 12, 135-144.
    • (2010) Genetics in Medicine , vol.12 , pp. 135-144
    • Bales, A.M.1    Zaleski, C.A.2    McPherson, E.W.3
  • 5
    • 35348822545 scopus 로고    scopus 로고
    • Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
    • Kobrynski, L.J., &, Sullivan, K.E., (2007) Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet, 370, 1443-1452.
    • (2007) Lancet , vol.370 , pp. 1443-1452
    • Kobrynski, L.J.1    Sullivan, K.E.2
  • 6
    • 0031046762 scopus 로고    scopus 로고
    • Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome
    • Cuneo, B.F., Driscoll, D.A., Gidding, S.S., et al,. (1997) Evolution of latent hypoparathyroidism in familial 22q11 deletion syndrome. American Journal of Medical Genetics, 69, 50-55.
    • (1997) American Journal of Medical Genetics , vol.69 , pp. 50-55
    • Cuneo, B.F.1    Driscoll, D.A.2    Gidding, S.S.3
  • 7
    • 0028050110 scopus 로고
    • Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
    • Scir, G., Dallapiccola, B., Iannetti, P., et al,. (1994) Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. American Journal of Medical Genetics, 52, 478-482.
    • (1994) American Journal of Medical Genetics , vol.52 , pp. 478-482
    • Scir, G.1    Dallapiccola, B.2    Iannetti, P.3
  • 8
    • 23844446999 scopus 로고    scopus 로고
    • Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome
    • Choi, J.H., Shin, Y.L., Kim, G.H., et al,. (2005) Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Hormone Research, 63, 294-299.
    • (2005) Hormone Research , vol.63 , pp. 294-299
    • Choi, J.H.1    Shin, Y.L.2    Kim, G.H.3
  • 9
    • 16944364802 scopus 로고    scopus 로고
    • Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
    • Ryan, A.K., Goodship, J.A., Wilson, D.I., et al,. (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Journal of Medical Genetics, 34, 798-804.
    • (1997) Journal of Medical Genetics , vol.34 , pp. 798-804
    • Ryan, A.K.1    Goodship, J.A.2    Wilson, D.I.3
  • 10
    • 0038020123 scopus 로고    scopus 로고
    • Parathyroid function and growth in 22q11.2 deletion syndrome
    • Brauner, R., De Gonneville, A.L., Kindermans, C., et al,. (2003) Parathyroid function and growth in 22q11.2 deletion syndrome. Journal of Pediatrics, 142, 504-508.
    • (2003) Journal of Pediatrics , vol.142 , pp. 504-508
    • Brauner, R.1    De Gonneville, A.L.2    Kindermans, C.3
  • 12
    • 0035746375 scopus 로고    scopus 로고
    • Endocrine aspects of the 22q11.2 deletion syndrome
    • Weinzimer, S.A., (2001) Endocrine aspects of the 22q11.2 deletion syndrome. Genetics in Medicine, 3, 19-22.
    • (2001) Genetics in Medicine , vol.3 , pp. 19-22
    • Weinzimer, S.A.1
  • 13
    • 80053181539 scopus 로고    scopus 로고
    • Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research
    • Bilezikian, J.P., Khan, A., Potts, J.T. Jr, et al,. (2011) Hypoparathyroidism in the adult: epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research. Journal of Bone and Mineral Research, 26, 2317-2337.
    • (2011) Journal of Bone and Mineral Research , vol.26 , pp. 2317-2337
    • Bilezikian, J.P.1    Khan, A.2    Potts, Jr.J.T.3
  • 14
    • 0037443783 scopus 로고    scopus 로고
    • Effects of calcium treatment on QT interval and QT dispersion in hypocalcemia
    • Eryol, N., Colak, R., Ozdogru, I., et al,. (2003) Effects of calcium treatment on QT interval and QT dispersion in hypocalcemia. American Journal of Cardiology, 91, 750-752.
    • (2003) American Journal of Cardiology , vol.91 , pp. 750-752
    • Eryol, N.1    Colak, R.2    Ozdogru, I.3
  • 15
    • 77956328282 scopus 로고    scopus 로고
    • Clinically detectable copy number variations in a Canadian catchment population of schizophrenia
    • Bassett, A.S., Costain, G., Fung, W.L.A., et al,. (2010) Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. Journal of Psychiatric Research, 44, 1005-1009.
    • (2010) Journal of Psychiatric Research , vol.44 , pp. 1005-1009
    • Bassett, A.S.1    Costain, G.2    Fung, W.L.A.3
  • 16
    • 56349136292 scopus 로고    scopus 로고
    • Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease
    • Fung, W.L.A., Chow, E.W.C., Webb, G.D., et al,. (2008) Extracardiac features predicting 22q11.2 Deletion Syndrome in adult congenital heart disease. International Journal of Cardiology, 131, 51-58.
    • (2008) International Journal of Cardiology , vol.131 , pp. 51-58
    • Fung, W.L.A.1    Chow, E.W.C.2    Webb, G.D.3
  • 17
    • 66249135663 scopus 로고    scopus 로고
    • Premature death in adults with 22q11.2 deletion syndrome
    • Bassett, A.S., Chow, E.W.C., Husted, J., et al,. (2009) Premature death in adults with 22q11.2 deletion syndrome. Journal of Medical Genetics, 46, 324-330.
    • (2009) Journal of Medical Genetics , vol.46 , pp. 324-330
    • Bassett, A.S.1    Chow, E.W.C.2    Husted, J.3
  • 18
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in digeorge and velocardiofacial syndromes - Implications for genetic-counseling and prenatal-diagnosis
    • Driscoll, D.A., Salvin, J., Sellinger, B., et al,. (1993) Prevalence of 22q11 microdeletions in digeorge and velocardiofacial syndromes-implications for genetic-counseling and prenatal-diagnosis. Journal of Medical Genetics, 30, 813-817.
    • (1993) Journal of Medical Genetics , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3
  • 19
    • 57049132697 scopus 로고    scopus 로고
    • Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
    • Bassett, A.S., Marshall, C.R., Lionel, A.C., et al,. (2008) Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Human Molecular Genetics, 17, 4045-4053.
    • (2008) Human Molecular Genetics , vol.17 , pp. 4045-4053
    • Bassett, A.S.1    Marshall, C.R.2    Lionel, A.C.3
  • 20
    • 33748895740 scopus 로고    scopus 로고
    • Neurocognitive profile in 22q11 deletion syndrome and schizophrenia
    • Chow, E.W.C., Watson, M., Young, D.A., et al,. (2006) Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophrenia Research, 87, 270-278.
    • (2006) Schizophrenia Research , vol.87 , pp. 270-278
    • Chow, E.W.C.1    Watson, M.2    Young, D.A.3
  • 21
    • 84893532527 scopus 로고    scopus 로고
    • Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome
    • Cheung, E.N.M., George, S.R., Andrade, D.M., et al,. (2014) Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genetics in Medicine, 16, 40-44.
    • (2014) Genetics in Medicine , vol.16 , pp. 40-44
    • Cheung, E.N.M.1    George, S.R.2    Andrade, D.M.3
  • 22
    • 79960168360 scopus 로고    scopus 로고
    • Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome
    • Lima, K., Abrahamsen, T.G., Wolff, A.B., et al,. (2011) Hypoparathyroidism and autoimmunity in the 22q11.2 deletion syndrome. European Journal of Endocrinology, 165, 345-352.
    • (2011) European Journal of Endocrinology , vol.165 , pp. 345-352
    • Lima, K.1    Abrahamsen, T.G.2    Wolff, A.B.3
  • 23
    • 77952638931 scopus 로고    scopus 로고
    • Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11))
    • Stagi, S., Lapi, E., Gambineri, E., et al,. (2010) Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). Clinical Endocrinology (Oxf), 72, 839-844.
    • (2010) Clinical Endocrinology (Oxf) , vol.72 , pp. 839-844
    • Stagi, S.1    Lapi, E.2    Gambineri, E.3
  • 26
    • 77954233030 scopus 로고    scopus 로고
    • McGraw-Hill Medical., 2nd edn. McGraw-Hill Medical, New York.
    • McGraw-Hill Medical. (2010) Harrison's Endocrinology, 2nd edn. McGraw-Hill Medical, New York.
    • (2010) Harrison's Endocrinology
  • 27
    • 0023020183 scopus 로고
    • The moderator mediator variable distinction in social psychological-research - Conceptual, strategic, and statistical considerations
    • Baron, R., &, Kenny, D., (1986) The moderator mediator variable distinction in social psychological-research-conceptual, strategic, and statistical considerations. Journal of Personality and Social Psychology, 51, 1173-1182.
    • (1986) Journal of Personality and Social Psychology , vol.51 , pp. 1173-1182
    • Baron, R.1    Kenny, D.2
  • 28
    • 79960444931 scopus 로고    scopus 로고
    • Practical guidelines for managing patients with 22q11.2 deletion syndrome
    • Bassett, A.S., McDonald-McGinn, D.M., Devriendt, K., et al,. (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. Journal of Pediatrics, 159, 332-339.e1.
    • (2011) Journal of Pediatrics , vol.159
    • Bassett, A.S.1    McDonald-Mcginn, D.M.2    Devriendt, K.3
  • 29
    • 6344233335 scopus 로고    scopus 로고
    • A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism
    • Maalouf, N., Sakhaee, K., &, Odvina, C., (2004) A case of chromosome 22q11 deletion syndrome diagnosed in a 32-year-old man with hypoparathyroidism. Journal of Clinical Endocrinology & Metabolism, 89, 4817-4820.
    • (2004) Journal of Clinical Endocrinology & Metabolism , vol.89 , pp. 4817-4820
    • Maalouf, N.1    Sakhaee, K.2    Odvina, C.3
  • 30
    • 33847675324 scopus 로고    scopus 로고
    • Parathyroid gland dysfunction in 22q11.2 deletion syndrome
    • Al-Jenaidi, F., Makitie, O., Grunebaum, E., et al,. (2007) Parathyroid gland dysfunction in 22q11.2 deletion syndrome. Hormone Research, 67, 117-122.
    • (2007) Hormone Research , vol.67 , pp. 117-122
    • Al-Jenaidi, F.1    Makitie, O.2    Grunebaum, E.3
  • 31
    • 0033033492 scopus 로고    scopus 로고
    • The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
    • McDonald-McGinn, D.M., Kirschner, R., Goldmuntz, E., et al,. (1999) The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genetic Counseling, 10, 11-24.
    • (1999) Genetic Counseling , vol.10 , pp. 11-24
    • McDonald-Mcginn, D.M.1    Kirschner, R.2    Goldmuntz, E.3
  • 32
    • 0000025287 scopus 로고
    • Discussion on a new concept of the cellular basis of immunity
    • DiGeorge AM, (1965) Discussion on a new concept of the cellular basis of immunity. Journal of Pediatrics, 67, 907-908.
    • (1965) Journal of Pediatrics , vol.67 , pp. 907-908
    • Digeorge, A.M.1
  • 34
    • 40949146142 scopus 로고    scopus 로고
    • Parathyroid hormone reserve in 22q11.2 deletion syndrome
    • Kapadia, C.R., Kim, Y.E., McDonald-McGinn, D.M., et al,. (2008) Parathyroid hormone reserve in 22q11.2 deletion syndrome. Genetics in Medicine, 10, 224-228.
    • (2008) Genetics in Medicine , vol.10 , pp. 224-228
    • Kapadia, C.R.1    Kim, Y.E.2    McDonald-Mcginn, D.M.3
  • 35
    • 34247201550 scopus 로고    scopus 로고
    • Vitamin D deficiency and secondary hyperparathyroidism among patients with chronic kidney disease
    • Khan, S., (2007) Vitamin D deficiency and secondary hyperparathyroidism among patients with chronic kidney disease. American Journal of the Medical Sciences, 333, 201-207.
    • (2007) American Journal of the Medical Sciences , vol.333 , pp. 201-207
    • Khan, S.1
  • 37
    • 27744597232 scopus 로고    scopus 로고
    • Milk-Alkali syndrome is a major cause of hypercalcaemia among non-end-stage renal disease (non-ESRD) inpatients
    • Picolos, M., Lavis, V., &, Orlander, P., (2005) Milk-Alkali syndrome is a major cause of hypercalcaemia among non-end-stage renal disease (non-ESRD) inpatients. Clinical Endocrinology (Oxf), 63, 566-576.
    • (2005) Clinical Endocrinology (Oxf) , vol.63 , pp. 566-576
    • Picolos, M.1    Lavis, V.2    Orlander, P.3
  • 38
    • 0017183721 scopus 로고
    • Functional hypoparathyroidism and parathyroid-hormone end-organ resistance in human magnesium-deficiency
    • Rude, R., Oldham, S., &, Singer, F., (1976) Functional hypoparathyroidism and parathyroid-hormone end-organ resistance in human magnesium-deficiency. Clinical Endocrinology (Oxf), 5, 209-224.
    • (1976) Clinical Endocrinology (Oxf) , vol.5 , pp. 209-224
    • Rude, R.1    Oldham, S.2    Singer, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.