-
1
-
-
0022586447
-
Familial isolated hypoparathyroidism: A molecular genetic analysis of 8 families with 23 affected persons
-
Ahn TG, Antonarakis SE, Kronenberg HM, Igarashi T, Levine MA (1986) Familial isolated hypoparathyroidism: A molecular genetic analysis of 8 families with 23 affected persons. Medicine 65: 73-81.
-
(1986)
Medicine
, vol.65
, pp. 73-81
-
-
Ahn, T.G.1
Antonarakis, S.E.2
Kronenberg, H.M.3
Igarashi, T.4
Levine, M.A.5
-
2
-
-
0026728345
-
Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
-
Bilous BW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Kendall-Taylor P (1992) Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327: 1069-1074.
-
(1992)
N Engl J Med
, vol.327
, pp. 1069-1074
-
-
Bilous, B.W.1
Murty, G.2
Parkinson, D.B.3
Thakker, R.V.4
Coulthard, M.G.5
Burn, J.6
Kendall-Taylor, P.7
-
3
-
-
0023930396
-
Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance
-
DeCampo C, Piscopellp L, Noacco C, DaCol P, Englaro GC, Benedetti A (1983) Primary familial hypoparathyroidism with an autosomal dominant mode of inheritance. J Endocrinol Invest 11: 91-96.
-
(1983)
J Endocrinol Invest
, vol.11
, pp. 91-96
-
-
DeCampo, C.1
Piscopellp, L.2
Noacco, C.3
DaCol, P.4
Englaro, G.C.5
Benedetti, A.6
-
4
-
-
0024571192
-
Autosomal dominant hypoparathyroisim with intracranial calcification outside the basal ganglia
-
McLeod DR, Hanley DA, McArthur RG (1989) Autosomal dominant hypoparathyroisim with intracranial calcification outside the basal ganglia. Am J Med Genet 32: 32-35.
-
(1989)
Am J Med Genet
, vol.32
, pp. 32-35
-
-
McLeod, D.R.1
Hanley, D.A.2
McArthur, R.G.3
-
5
-
-
0026865130
-
A donor splice site mutation in the parathyroid gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson DB, Thakker RV (1992) A donor splice site mutation in the parathyroid gene is associated with autosomal recessive hypoparathyroidism. Nature Genetics 1: 149-152.
-
(1992)
Nature Genetics
, vol.1
, pp. 149-152
-
-
Parkinson, D.B.1
Thakker, R.V.2
-
6
-
-
0020562965
-
Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy
-
Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR (1983) Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genetics 16: 99-104.
-
(1983)
Am J Med Genetics
, vol.16
, pp. 99-104
-
-
Dahlberg, P.J.1
Borer, W.Z.2
Newcomer, K.L.3
Yutuc, W.R.4
-
7
-
-
0025013749
-
Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
-
Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. J Clin Invest 86: 1084-1087.
-
(1990)
J Clin Invest
, vol.86
, pp. 1084-1087
-
-
Arnold, A.1
Horst, S.A.2
Gardella, T.J.3
Baba, H.4
Levine, M.A.5
Kronenberg, H.M.6
-
8
-
-
8244255147
-
One case of familial idiopathic hypoparathyroidism
-
Yamamoto T, Kato Y, Konishi Y, Tukaguti H, Yoshimasa Y, Yshimasa T, Ishii H, Yagura T, Ohonishi T (1993) One case of familial idiopathic hypoparathyroidism. Clin Endocrinol (Tokyo) 41 (Suppl): 119-122.
-
(1993)
Clin Endocrinol (Tokyo)
, vol.41
, Issue.SUPPL.
, pp. 119-122
-
-
Yamamoto, T.1
Kato, Y.2
Konishi, Y.3
Tukaguti, H.4
Yoshimasa, Y.5
Yshimasa, T.6
Ishii, H.7
Yagura, T.8
Ohonishi, T.9
-
9
-
-
0029904063
-
Familial isolated hypoparathyroidism: Case report with serum PTHrP examination
-
Koshiyama H, Mori S, Koh T, Tatsuoka Y, Mune T, Katakami H (1996) Familial isolated hypoparathyroidism: Case report with serum PTHrP examination. Endocr J 43: 569-572.
-
(1996)
Endocr J
, vol.43
, pp. 569-572
-
-
Koshiyama, H.1
Mori, S.2
Koh, T.3
Tatsuoka, Y.4
Mune, T.5
Katakami, H.6
-
10
-
-
8244240528
-
Two cases of familial idiopathic hypoparathyroidism associated with deafness and high serum CPK level
-
Hino M, Koh T, Hattori N, Ishihara T, Moridera K, Kurahachi H, Ikekubo K (1992) Two cases of familial idiopathic hypoparathyroidism associated with deafness and high serum CPK level. Clin Endocrinol (Tokyo) 40 (Suppl): 128-130.
-
(1992)
Clin Endocrinol (Tokyo)
, vol.40
, Issue.SUPPL.
, pp. 128-130
-
-
Hino, M.1
Koh, T.2
Hattori, N.3
Ishihara, T.4
Moridera, K.5
Kurahachi, H.6
Ikekubo, K.7
-
11
-
-
0026552008
-
Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism
-
Miric A, Levine MA (1992) Analysis of the preproPTH gene by denaturing gradient gel electrophoresis in familial isolated hypoparathyroidism. J Clin Endocrinol Metab 74: 509-516.
-
(1992)
J Clin Endocrinol Metab
, vol.74
, pp. 509-516
-
-
Miric, A.1
Levine, M.A.2
-
12
-
-
0029041620
-
Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone(PTH)/PTH-related peptide receptor gene
-
Schipani E, Weinstein S, Bergwitz C, Iida-Klein A, Kong XF, Stuhermann M, Kruse K, Whyte MP, Murray T, Schmidtke J, van Dop C, Brickman AS, Crawford JD, Potts Jr JT, Kronenberg HM, Abou-Samra AB, Segre GV, Juppner H (1995) Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone(PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 80: 1611-1621.
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1611-1621
-
-
Schipani, E.1
Weinstein, S.2
Bergwitz, C.3
Iida-Klein, A.4
Kong, X.F.5
Stuhermann, M.6
Kruse, K.7
Whyte, M.P.8
Murray, T.9
Schmidtke, J.10
Van Dop, C.11
Brickman, A.S.12
Crawford, J.D.13
Potts Jr., J.T.14
Kronenberg, H.M.15
Abou-Samra, A.B.16
Segre, G.V.17
Juppner, H.18
-
14
-
-
0000364017
-
Nucleotide sequence of the human parathyroid hormone gene
-
Vasicek TJ, McDevitt BE, Freeman MW, Fenick BJ, Hendy GN, Potts Jr JY, Rich A, Kronenberg HM (1983) Nucleotide sequence of the human parathyroid hormone gene. Proc Nail Acad Sci USA 80: 2127-2131.
-
(1983)
Proc Nail Acad Sci USA
, vol.80
, pp. 2127-2131
-
-
Vasicek, T.J.1
McDevitt, B.E.2
Freeman, M.W.3
Fenick, B.J.4
Hendy, G.N.5
Potts Jr., J.Y.6
Rich, A.7
Kronenberg, H.M.8
-
15
-
-
0024595101
-
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
-
Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1988) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766-2770.
-
(1988)
Proc Natl Acad Sci USA
, vol.86
, pp. 2766-2770
-
-
Orita, M.1
Iwahana, H.2
Kanazawa, H.3
Hayashi, K.4
Sekiya, T.5
-
16
-
-
0242581339
-
Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus
-
Gyllensten UB, Erlich HA (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85: 7652-7656.
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 7652-7656
-
-
Gyllensten, U.B.1
Erlich, H.A.2
-
17
-
-
0023850178
-
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
-
Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239: 487-491.
-
(1988)
Science
, vol.239
, pp. 487-491
-
-
Saiki, R.K.1
Gelfand, D.H.2
Stoffel, S.3
Scharf, S.J.4
Higuchi, R.5
Horn, G.T.6
Mullis, K.B.7
Erlich, H.A.8
-
18
-
-
0026654801
-
Conserved mechanism of negative gene regulation by extracellular calcium
-
Okazaki T, Ando K, Igarashi T, Ogata E, Fujita T (1992) Conserved mechanism of negative gene regulation by extracellular calcium. J Clin Invest 89: 1268-1273.
-
(1992)
J Clin Invest
, vol.89
, pp. 1268-1273
-
-
Okazaki, T.1
Ando, K.2
Igarashi, T.3
Ogata, E.4
Fujita, T.5
-
19
-
-
0027765508
-
2+-sensing receptor from bovine parathyroid
-
2+-sensing receptor from bovine parathyroid. Nature 366: 575-580.
-
(1993)
Nature
, vol.366
, pp. 575-580
-
-
Brown, E.M.1
Gamba, G.2
Riccard, D.3
Lombard, M.4
Butters, R.5
Klfor, O.6
Sun, A.7
Hediger, M.A.8
Lytton, J.9
Hebert, S.C.10
-
20
-
-
0028037143
-
2+-sensing receptor gene mutation
-
2+-sensing receptor gene mutation. Nature Genetics 8: 303-307.
-
(1994)
Nature Genetics
, vol.8
, pp. 303-307
-
-
Pollak, M.R.1
Brown, E.M.2
Estep, H.L.3
McLaine, P.N.4
Kifor, O.5
Park, J.6
Hebert, S.C.7
Seidman, C.E.8
Seidman, J.G.9
-
22
-
-
0030051024
-
Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism
-
Yangxin Li, Yao-Hua Song, Nadeem Rais, Ellen Connor, Desmond Schatz, Andrew Muir, Noel Maclaren (1996) Autoantibodies to the extracellular domain of the calcium sensing receptor in patients with acquired hypoparathyroidism. J Clin Invest 97: 910-914.
-
(1996)
J Clin Invest
, vol.97
, pp. 910-914
-
-
Li, Y.1
Song, Y.-H.2
Rais, N.3
Connor, E.4
Schatz, D.5
Muir, A.6
Maclaren, N.7
|