-
1
-
-
85031595408
-
-
for a map of human chromosome 1
-
Chromosome 1 Home Page, http://linkage.rockefeller.edu/ chr1/data/genmap/chr1-154.GIF (for a map of human chromosome 1)
-
-
-
-
2
-
-
85031595377
-
-
for STRPs
-
Cooperative Human Linkage Center, http://www.chlc.org (for STRPs)
-
-
-
-
3
-
-
85031589695
-
-
for cDNAs in 1q42-43
-
National Center for Biotechnology Information Human Gene Map, http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/ msrch2 (for cDNAs in 1q42-43)
-
-
-
-
4
-
-
85031595920
-
-
for autosomal recessive hypoparathyroidism [MIM 241410]
-
Online Mendelian inheritance in man (OMIM), http:// www.ncbi.nlm.nih.gov/Omim (for autosomal recessive hypoparathyroidism [MIM 241410])
-
-
-
-
5
-
-
85031579339
-
-
for a mouse region syntenic to 1q43, http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-homology2.pl?1+q+42-43; and for gene or phenotype in the mouse, http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-id-look2.pl?13+A1-A2
-
U.K. Human Genome Mapping Project Resource Center, http://www.hgmp.mrc.ac.uk (for a mouse region syntenic to 1q43, http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-homology2.pl?1+q+42-43; and for gene or phenotype in the mouse, http://www.hgmp.mrc.ac.uk/dhmhd-bin/mous-id-look2.pl?13+A1-A2)
-
-
-
-
7
-
-
0022326119
-
Hypocalcemia from deficiency of and resistance to parathyroid hormone
-
Alon U, Chan JCM (1985) Hypocalcemia from deficiency of and resistance to parathyroid hormone. Adv Pediatr 32: 439-468
-
(1985)
Adv Pediatr
, vol.32
, pp. 439-468
-
-
Alon, U.1
Chan, J.C.M.2
-
8
-
-
19244364490
-
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43
-
Barrat FJ, Auloge L, Pastural E, Lagelouse RD, Vilmer E, Cant AJ, Weissenbach J, et al (1996) Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43. Am J Hum Genet 59:625-632
-
(1996)
Am J Hum Genet
, vol.59
, pp. 625-632
-
-
Barrat, F.J.1
Auloge, L.2
Pastural, E.3
Lagelouse, R.D.4
Vilmer, E.5
Cant, A.J.6
Weissenbach, J.7
-
9
-
-
0031193430
-
Localization of the Rab escort protein-2 and inositol 1,4,5-triphosphate 3-kinase genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44
-
Barrat FJ, Depetris D, Certain S, Mattei M-G, de Saint Basile G (1997) Localization of the Rab escort protein-2 and inositol 1,4,5-triphosphate 3-kinase genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44. Genomics 43: 111-113
-
(1997)
Genomics
, vol.43
, pp. 111-113
-
-
Barrat, F.J.1
Depetris, D.2
Certain, S.3
Mattei, M.-G.4
De Saint Basile, G.5
-
10
-
-
0026728345
-
Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
-
Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, et al (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, R.W.1
Murty, G.2
Parkinson, D.B.3
Thakker, R.V.4
Coulthard, M.G.5
Burn, J.6
Mathias, D.7
-
11
-
-
0029051541
-
Calcium-ion- sensing receptors
-
Brown EM, Pollak M, Seidman CE, Seidman JG, Chou YHW, Riccardi D, Hebert SC (1995) Calcium-ion-sensing receptors. N Engl J Med 333:234-240
-
(1995)
N Engl J Med
, vol.333
, pp. 234-240
-
-
Brown, E.M.1
Pollak, M.2
Seidman, C.E.3
Seidman, J.G.4
Chou, Y.H.W.5
Riccardi, D.6
Hebert, S.C.7
-
12
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
-
Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, et al (1992) Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 51:964-970
-
(1992)
Am J Hum Genet
, vol.51
, pp. 964-970
-
-
Carey, A.H.1
Kelly, D.2
Halford, S.3
Wadey, R.4
Wilson, D.5
Goodship, J.6
Burn, J.7
-
15
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, et al (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
McDonald-McGinn, D.M.4
Zackai, E.H.5
Goldberg, R.B.6
Shprintzen, R.J.7
-
16
-
-
0022456215
-
Kenny syndrome: Evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one
-
Fanconi S, Fischer JA, Wieland P, Atares M, Fanconi A, Giedion A, Prader A (1986) Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr 109:469-475
-
(1986)
J Pediatr
, vol.109
, pp. 469-475
-
-
Fanconi, S.1
Fischer, J.A.2
Wieland, P.3
Atares, M.4
Fanconi, A.5
Giedion, A.6
Prader, A.7
-
17
-
-
0028074712
-
Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13
-
Finegold DN, Armitage MM, Galiani M, Matise TC, Pandian MR, Perry YM, Deka R, et al (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13. Pediatr Res 36:414-417
-
(1994)
Pediatr Res
, vol.36
, pp. 414-417
-
-
Finegold, D.N.1
Armitage, M.M.2
Galiani, M.3
Matise, T.C.4
Pandian, M.R.5
Perry, Y.M.6
Deka, R.7
-
18
-
-
0346599403
-
An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains
-
Finnish-German APECED Consortium, The (1997) An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet 17:399-403
-
(1997)
Nat Genet
, vol.17
, pp. 399-403
-
-
-
20
-
-
9244231284
-
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains
-
Health H III, Odelberg S, Jackson CE, Teh BT, Hayward N, Larsson C, Buist NR, et al (1996) Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab 81:1312-1317
-
(1996)
J Clin Endocrinol Metab
, vol.81
, pp. 1312-1317
-
-
Health III, H.1
Odelberg, S.2
Jackson, C.E.3
Teh, B.T.4
Hayward, N.5
Larsson, C.6
Buist, N.R.7
-
21
-
-
0029007657
-
The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation and psychomotor delay - A report of six patients
-
Hershkovitz E, Shalitin S, Levy J, Leiberman E, Weinshtock A, Varsano I, Gorodischer R (1995) The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation and psychomotor delay - a report of six patients. Isr J Med Sci 31:293-297
-
(1995)
Isr J Med Sci
, vol.31
, pp. 293-297
-
-
Hershkovitz, E.1
Shalitin, S.2
Levy, J.3
Leiberman, E.4
Weinshtock, A.5
Varsano, I.6
Gorodischer, R.7
-
22
-
-
0028940268
-
2+ sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
-
2+ sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Am J Hum Genet 56:880-886
-
(1995)
Am J Hum Genet
, vol.56
, pp. 880-886
-
-
Janicic, N.1
Pausova, Z.2
Cole, D.E.C.3
Hendy, G.N.4
-
23
-
-
0031055673
-
Kenny-Caffey syndrome in six Bedouin sibships: Autosomal recessive inheritance is confirmed
-
Tahseen K, Khan S, Uma R, Usha R, Al Ghanem MM, Al Awadi SA, Farag TI (1997) Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. Am J Med Genet 69:126-132
-
(1997)
Am J Med Genet
, vol.69
, pp. 126-132
-
-
Tahseen, K.1
Khan, S.2
Uma, R.3
Usha, R.4
Al Ghanem, M.M.5
Al Awadi, S.A.6
Farag, T.I.7
-
24
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA ot inbred children
-
Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA ot inbred children Science 236:1567-1570
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
26
-
-
16944367194
-
Positional cloning of the APECED eene
-
Nagamine K, Peterson P, Scott HS, Kudoh J, Minoshima S, Heino M, Krohn KJE, et al (1997) Positional cloning of the APECED eene Nat Genet 17:393-398
-
(1997)
Nat Genet
, vol.17
, pp. 393-398
-
-
Nagamine, K.1
Peterson, P.2
Scott, H.S.3
Kudoh, J.4
Minoshima, S.5
Heino, M.6
Krohn, K.J.E.7
-
27
-
-
0029925102
-
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
-
Nystuen A, Benke PJ, Merren J, Stone EM, Sheffield VC (1996) A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum Mol Genet 5:525-531
-
(1996)
Hum Mol Genet
, vol.5
, pp. 525-531
-
-
Nystuen, A.1
Benke, P.J.2
Merren, J.3
Stone, E.M.4
Sheffield, V.C.5
-
28
-
-
0026865130
-
A donor splice site mutation in the PTH gene is associated with autosomal recessive hypoparathyroidism
-
Parkinson DB, Thakker RV (1992) A donor splice site mutation in the PTH gene is associated with autosomal recessive hypoparathyroidism. Nat Genet 1:149-152.
-
(1992)
Nat Genet
, vol.1
, pp. 149-152
-
-
Parkinson, D.B.1
Thakker, R.V.2
-
29
-
-
0028848215
-
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism
-
Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB Heath DA, et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest 96:2683-2692
-
(1995)
J Clin Invest
, vol.96
, pp. 2683-2692
-
-
Pearce, S.H.1
Trump, D.2
Wooding, C.3
Besser, G.M.4
Chew, S.L.5
Grant, D.B.6
Heath, D.A.7
-
30
-
-
10144256536
-
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
-
Pearce SHS, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, Lewis-Barned N, et al (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335:1115-1122
-
(1996)
N Engl J Med
, vol.335
, pp. 1115-1122
-
-
Pearce, S.H.S.1
Williamson, C.2
Kifor, O.3
Bai, M.4
Coulthard, M.G.5
Davies, M.6
Lewis-Barned, N.7
-
32
-
-
0025114264
-
Short stature mental retardation, and hypoparathyroidism: A new syndrome
-
Richardson RJ, Kirk JMW (1990) Short stature mental retardation, and hypoparathyroidism: a new syndrome. Arch Dis Child 65:1113-1117
-
(1990)
Arch Dis Child
, vol.65
, pp. 1113-1117
-
-
Richardson, R.J.1
Kirk, J.M.W.2
-
33
-
-
0025963366
-
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features
-
Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RDG (1991) A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 66:193-196
-
(1991)
Arch Dis Child
, vol.66
, pp. 193-196
-
-
Sanjad, S.A.1
Sakati, N.A.2
Abu-Osba, Y.K.3
Kaddoura, R.4
Milner, R.D.G.5
-
34
-
-
0025951601
-
Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay
-
Shaw NJ, Haigh D, Lealmann GT, Karbani G Brocklebank JT, Dillon MJ (1991) Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay. Arch Dis Child 66:1191-1194
-
(1991)
Arch Dis Child
, vol.66
, pp. 1191-1194
-
-
Shaw, N.J.1
Haigh, D.2
Lealmann, G.T.3
Karbani, G.4
Brocklebank, J.T.5
Dillon, M.J.6
-
35
-
-
1642592637
-
Homozygosity mapping using pooled DNA
-
Dracopoli NC, Haines JH, Korf BR, Moir DT, Morton CC, Seidman CE, Smith DR (eds) John Wiley & Sons, New York
-
Sheffield VC (1997) Homozygosity mapping using pooled DNA In: Dracopoli NC, Haines JH, Korf BR, Moir DT, Morton CC, Seidman CE, Smith DR (eds) Current protocols in human genetics. John Wiley & Sons, New York, pp 1.11.1-1.11.21
-
(1997)
Current Protocols in Human Genetics
, pp. 1111-11121
-
-
Sheffield, V.C.1
-
37
-
-
0000655012
-
The detection of linkage in human genetics
-
Smith C (1953) The detection of linkage in human genetics. J R Stat Soc Brit 15:135-184
-
(1953)
J R Stat Soc Brit
, vol.15
, pp. 135-184
-
-
Smith, C.1
-
38
-
-
0025332731
-
Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
-
Thakker RV, Davies KE, Whyte MP, Wooding C, O'Riordan LH (1990) Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies. J Clin Invest 86:40-45
-
(1990)
J Clin Invest
, vol.86
, pp. 40-45
-
-
Thakker, R.V.1
Davies, K.E.2
Whyte, M.P.3
Wooding, C.4
O'Riordan, L.H.5
-
39
-
-
0030922551
-
Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
-
Wang C-Y, Hawkins-Lee B, Ochoa B, Walker DR, She J-X (1997) Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Hum Genet 60: 1461-1467
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1461-1467
-
-
Wang, C.-Y.1
Hawkins-Lee, B.2
Ochoa, B.3
Walker, D.R.4
She, J.-X.5
-
40
-
-
0019868775
-
Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred
-
Whyte MP, Weldon W (1981) Idiopathic hypoparathyroidism presenting with seizures during infancy: X-linked recessive inheritance in a large Missouri kindred. J Pediatr 99: 608-611
-
(1981)
J Pediatr
, vol.99
, pp. 608-611
-
-
Whyte, M.P.1
Weldon, W.2
-
41
-
-
0020609858
-
Autosomal dominant hypoparathyroidism with variable, age dependent severity
-
Winter WE, Silverstein JH, Maclaren NK, Riley WJ, Chiaro JJ (1983) Autosomal dominant hypoparathyroidism with variable, age dependent severity. J Pediatr 103:387-390
-
(1983)
J Pediatr
, vol.103
, pp. 387-390
-
-
Winter, W.E.1
Silverstein, J.H.2
Maclaren, N.K.3
Riley, W.J.4
Chiaro, J.J.5
|