-
1
-
-
0029988982
-
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24
-
Stevens HP, Kelsell DP, Bryant SP, Bishop DT, Spurr NK, Weissenbach J, Marger D, Marger RS, Leigh IM: Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Arch Dermatol 1996; 132:640-651.
-
(1996)
Arch Dermatol
, vol.132
, pp. 640-651
-
-
Stevens, H.P.1
Kelsell, D.P.2
Bryant, S.P.3
Bishop, D.T.4
Spurr, N.K.5
Weissenbach, J.6
Marger, D.7
Marger, R.S.8
Leigh, I.M.9
-
2
-
-
0002704375
-
Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur: Coexistence dans les deux cas d'altérations dentaires graves
-
Papillon MM, Lefèvre P: Deux cas de kératodermie palmaire et plantaire symétrique familiale (maladie de Meleda) chez le frère et la soeur: Coexistence dans les deux cas d'altérations dentaires graves. Bull Soc Franç Dermatol Syph 1924;31:82-87.
-
(1924)
Bull Soc Franç Dermatol Syph
, vol.31
, pp. 82-87
-
-
Papillon, M.M.1
Lefèvre, P.2
-
3
-
-
0018330757
-
The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature
-
Haneke E: The Papillon-Lefèvre syndrome: Keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet 1979;51:1-35.
-
(1979)
Hum Genet
, vol.51
, pp. 1-35
-
-
Haneke, E.1
-
4
-
-
0029303522
-
Papillon-Lefèvre syndrome: A review of the literature and report of 4 cases
-
Hattab FN, Rawashdeh MA, Yassin OM, Al Momani AS, Al-Ubosi MM: Papillon-Lefèvre syndrome: A review of the literature and report of 4 cases. J Periodontol 1995;66:413-420.
-
(1995)
J Periodontol
, vol.66
, pp. 413-420
-
-
Hattab, F.N.1
Rawashdeh, M.A.2
Yassin, O.M.3
Al Momani, A.S.4
Al-Ubosi, M.M.5
-
5
-
-
58149435197
-
The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth
-
Gorlin RJ, Sedano H, Anderson VE: The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth. J Pediatr 1964;65:895-908.
-
(1964)
J Pediatr
, vol.65
, pp. 895-908
-
-
Gorlin, R.J.1
Sedano, H.2
Anderson, V.E.3
-
6
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
-
Lander ES, Botstein D: Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children. Science 1987;236: 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
7
-
-
0028240980
-
Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping
-
Reed PW, Davies JL, Copeman JB, Bennett ST, Palmer SM, Pritchard LE, Gough SCL, Kawaguchi Y, Cordell HJ, Balfour KM, Jenkins SC, Powell EE, Vignal A, Todd JA: Chromosome-specific microsatellite sets for fluorescence-based, semiautomated genome mapping. Nat Genet 1994;7:390-395.
-
(1994)
Nat Genet
, vol.7
, pp. 390-395
-
-
Reed, P.W.1
Davies, J.L.2
Copeman, J.B.3
Bennett, S.T.4
Palmer, S.M.5
Pritchard, L.E.6
Gough, S.C.L.7
Kawaguchi, Y.8
Cordell, H.J.9
Balfour, K.M.10
Jenkins, S.C.11
Powell, E.E.12
Vignal, A.13
Todd, J.A.14
-
8
-
-
0000926583
-
Gene and Chromosome Analysis. Part A
-
Adolph KW (ed): San Diego, Academic Press
-
Vignal A, Gyapay G, Hazan J, Nguyen S, Dupraz C, Cheron N, Becuwe N, Tranchant M, Weissenbach J: Gene and Chromosome Analysis. Part A; in Adolph KW (ed): Nonradioactive Multiplex Procedure for Genotyping of Microsatellite Markers. San Diego, Academic Press, 1993, vol 1, pp 211-221.
-
(1993)
Nonradioactive Multiplex Procedure for Genotyping of Microsatellite Markers
, vol.1
, pp. 211-221
-
-
Vignal, A.1
Gyapay, G.2
Hazan, J.3
Nguyen, S.4
Dupraz, C.5
Cheron, N.6
Becuwe, N.7
Tranchant, M.8
Weissenbach, J.9
-
9
-
-
0021850103
-
Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination
-
Lathrop GM, Lalouel JM, Julier C, Ott J: Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-498.
-
(1985)
Am J Hum Genet
, vol.37
, pp. 482-498
-
-
Lathrop, G.M.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
10
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
11
-
-
0028864458
-
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
-
Shamsher MK, Navsaria HA, Stevens HP, Ratnavel RC, Purkis PE, Kelsell DP, McLean WHI, Cook LJ, Griffiths WAD, Gschmeissner S, Spurr N, Leigh IM: Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 1995;4:1875-1881.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1875-1881
-
-
Shamsher, M.K.1
Navsaria, H.A.2
Stevens, H.P.3
Ratnavel, R.C.4
Purkis, P.E.5
Kelsell, D.P.6
McLean, W.H.I.7
Cook, L.J.8
Griffiths, W.A.D.9
Gschmeissner, S.10
Spurr, N.11
Leigh, I.M.12
-
12
-
-
0029039363
-
Mutation of a type II keratin gene (K6a) in pachyonychia congenita
-
Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner R: Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995;10:363-365.
-
(1995)
Nat Genet
, vol.10
, pp. 363-365
-
-
Bowden, P.E.1
Haley, J.L.2
Kansky, A.3
Rothnagel, J.A.4
Jones, D.O.5
Turner, R.6
-
13
-
-
0028842339
-
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
-
McLean WHI, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJC, Griffiths WAD, Eady RAJ, Higgins C, Navsaria HA, Leigh IM, Strachan T, Kunkler L, Munro CS: Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995;9:273-278.
-
(1995)
Nat Genet
, vol.9
, pp. 273-278
-
-
McLean, W.H.I.1
Rugg, E.L.2
Lunny, D.P.3
Morley, S.M.4
Lane, E.B.5
Swensson, O.6
Dopping-Hepenstal, P.J.C.7
Griffiths, W.A.D.8
Eady, R.A.J.9
Higgins, C.10
Navsaria, H.A.11
Leigh, I.M.12
Strachan, T.13
Kunkler, L.14
Munro, C.S.15
-
14
-
-
0023554995
-
Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II
-
Natt E, Westphal E-M, Toth-Fejel SE, Magenis RE, Buist NRM, Rettenmeier R, Scherer G: Inherited and de novo deletion of the tyrosine aminotransferase gene locus at 16q22.1-q22.3 in a patient with tyrosinemia type II. Hum Genet 1987;77:352-358.
-
(1987)
Hum Genet
, vol.77
, pp. 352-358
-
-
Natt, E.1
Westphal, E.-M.2
Toth-Fejel, S.E.3
Magenis, R.E.4
Buist, N.R.M.5
Rettenmeier, R.6
Scherer, G.7
-
15
-
-
15844391073
-
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
-
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM: A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996;13: 70-77.
-
(1996)
Nat Genet
, vol.13
, pp. 70-77
-
-
Maestrini, E.1
Monaco, A.P.2
McGrath, J.A.3
Ishida-Yamamoto, A.4
Camisa, C.5
Hovnanian, A.6
Weeks, D.E.7
Lathrop, M.8
Uitto, J.9
Christiano, A.M.10
-
16
-
-
0027985785
-
Tylosis oesophageal cancer mapped
-
Risk JM, Field EA, Field JK, Whittaker J, Fryer A, Ellis A, Shaw JM, Friedmann PS, Bishop DT, Bodmer J, Leigh IM: Tylosis oesophageal cancer mapped. Nature Genet 1994; 8:319-321.
-
(1994)
Nature Genet
, vol.8
, pp. 319-321
-
-
Risk, J.M.1
Field, E.A.2
Field, J.K.3
Whittaker, J.4
Fryer, A.5
Ellis, A.6
Shaw, J.M.7
Friedmann, P.S.8
Bishop, D.T.9
Bodmer, J.10
Leigh, I.M.11
-
17
-
-
0029881589
-
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13
-
Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC, Rouleau G: The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13. Hum Mol Genet 1996;5:543-547.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 543-547
-
-
Kibar, Z.1
Der Kaloustian, V.M.2
Brais, B.3
Hani, V.4
Fraser, F.C.5
Rouleau, G.6
-
18
-
-
0027203728
-
Reevaluation of the chromosome 4q candidate region for early onset periodontitis
-
Hart TC, Marazita ML, Schenkein HA, Diehl SR: Reevaluation of the chromosome 4q candidate region for early onset periodontitis. Hum Genet 1993;91:416-422.
-
(1993)
Hum Genet
, vol.91
, pp. 416-422
-
-
Hart, T.C.1
Marazita, M.L.2
Schenkein, H.A.3
Diehl, S.R.4
-
19
-
-
0023583222
-
cDNA cloning and chromosomal localization (4q11-13) of a gene for statherin, a regulator of calcium in saliva
-
Sabatini LM, Carlock LR, Johnson GW, Azen EA: cDNA cloning and chromosomal localization (4q11-13) of a gene for statherin, a regulator of calcium in saliva. Am J Hum Genet 1987;41:1048-1060.
-
(1987)
Am J Hum Genet
, vol.41
, pp. 1048-1060
-
-
Sabatini, L.M.1
Carlock, L.R.2
Johnson, G.W.3
Azen, E.A.4
-
20
-
-
0018797994
-
Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis
-
Linch DC, Acton CHC: Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis. Br Dent J 1979;147:95-96.
-
(1979)
Br Dent J
, vol.147
, pp. 95-96
-
-
Linch, D.C.1
Acton, C.H.C.2
|