-
1
-
-
0000250510
-
Orodigitofacial dysostosis. A new syndrome
-
Gorlin, R. and Psaume, J. (1962) Orodigitofacial dysostosis. A new syndrome. J. Paediatr., 61, 520-530.
-
(1962)
J. Paediatr.
, vol.61
, pp. 520-530
-
-
Gorlin, R.1
Psaume, J.2
-
2
-
-
0027522655
-
Oral-facial-digital syndromes, 1992
-
Toriello, H.V. (1993) Oral-facial-digital syndromes, 1992. Clin. Dysmorph., 2, 95-105.
-
(1993)
Clin. Dysmorph.
, vol.2
, pp. 95-105
-
-
Toriello, H.V.1
-
3
-
-
0026036376
-
Variability of expression of the orofaciodigital syndrome type 1 in black females: Six cases
-
Salinas, C., Pai, G., Vera, C., Milutinovich, J., Hagerty, R., Cooper, J. and Cagna, D. (1991) Variability of expression of the orofaciodigital syndrome type 1 in black females: six cases. Am. J. Med. Genet., 38, 574-582.
-
(1991)
Am. J. Med. Genet.
, vol.38
, pp. 574-582
-
-
Salinas, C.1
Pai, G.2
Vera, C.3
Milutinovich, J.4
Hagerty, R.5
Cooper, J.6
Cagna, D.7
-
4
-
-
0023119235
-
Orofaciodigital syndrome type 1 associated with polycystic kidneys and agenesis of the corpus callosum
-
Connacher, A.A., Forsyth, C.C. and Stewart, W.K. (1987) Orofaciodigital syndrome type 1 associated with polycystic kidneys and agenesis of the corpus callosum. J. Med. Genet., 24, 116-122.
-
(1987)
J. Med. Genet.
, vol.24
, pp. 116-122
-
-
Connacher, A.A.1
Forsyth, C.C.2
Stewart, W.K.3
-
5
-
-
0023110308
-
Familial orofaciodigital syndrome type 1 presenting as adult polycystic kidney disease
-
Donnai, D., Kerzin-Storrar, L. and Harris, R. (1987) Familial orofaciodigital syndrome type 1 presenting as adult polycystic kidney disease. J. Med. Genet., 24, 84-87.
-
(1987)
J. Med. Genet.
, vol.24
, pp. 84-87
-
-
Donnai, D.1
Kerzin-Storrar, L.2
Harris, R.3
-
6
-
-
8544257762
-
Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: Clinical, radiological and histopathological features of a new kindred
-
in press
-
Feather, S.A., Winyard, P.J.D., Dodd, S. and Woolf, A.S. (1996) Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Nephrol., Dial. Transplant., in press.
-
(1996)
Nephrol., Dial. Transplant.
-
-
Feather, S.A.1
Winyard, P.J.D.2
Dodd, S.3
Woolf, A.S.4
-
7
-
-
0001003485
-
Studies of a family with the oral-facial-digital syndrome
-
Doege, T., Thuline, H., Priest, J., Norby, D. and Bryant, J. (1964) Studies of a family with the oral-facial-digital syndrome. N Engl. J. Med., 271, 1073-1080.
-
(1964)
N Engl. J. Med.
, vol.271
, pp. 1073-1080
-
-
Doege, T.1
Thuline, H.2
Priest, J.3
Norby, D.4
Bryant, J.5
-
8
-
-
0020518307
-
X-linked dominant inherited diseases with lethality in hemizygous males
-
Wettke-Schafer, R. and Kantner, G. (1983) X-linked dominant inherited diseases with lethality in hemizygous males. Hum Genet., 64, 1-23.
-
(1983)
Hum Genet.
, vol.64
, pp. 1-23
-
-
Wettke-Schafer, R.1
Kantner, G.2
-
9
-
-
0027242038
-
Oral-facial-digital syndrome type 1 in a newborn male
-
Gillerot, Y., Heimann, M., Fourneau, C., Verellen-Dumoulin, C. and Van Maldergem, L. (1993) Oral-facial-digital syndrome type 1 in a newborn male. Am. J. Med. Genet., 46, 335-383.
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 335-383
-
-
Gillerot, Y.1
Heimann, M.2
Fourneau, C.3
Verellen-Dumoulin, C.4
Van Maldergem, L.5
-
10
-
-
0013909318
-
The oral-facial-digital syndrome: A male lethal condition in a boy with 47XXY chromosome
-
Wahrman, J., Berant, M., Jacobs, J., Aviad, I. and Ben-Hur, N. (1966) The oral-facial-digital syndrome: a male lethal condition in a boy with 47XXY chromosome. Paediatrics, 37, 812-821.
-
(1966)
Paediatrics
, vol.37
, pp. 812-821
-
-
Wahrman, J.1
Berant, M.2
Jacobs, J.3
Aviad, I.4
Ben-Hur, N.5
-
11
-
-
0001218187
-
The oral-facial-digital syndrome: A multiple congential condition of females with associated chromosomal abnormalities
-
Ruess, A., Pruzansky, S., Lis, E. and Patau, K. (1962) The oral-facial-digital syndrome: a multiple congential condition of females with associated chromosomal abnormalities. Pediatrics, 29, 985-994.
-
(1962)
Pediatrics
, vol.29
, pp. 985-994
-
-
Ruess, A.1
Pruzansky, S.2
Lis, E.3
Patau, K.4
-
13
-
-
0024254816
-
Heterogeneity and variability in the oral-facial-digital syndromes
-
Toriello, H. (1988) Heterogeneity and variability in the oral-facial-digital syndromes. Am. J. Med. Genet., Suppl. 4, 149-159.
-
(1988)
Am. J. Med. Genet., Suppl.
, vol.4
, pp. 149-159
-
-
Toriello, H.1
-
14
-
-
0028892091
-
An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3
-
Ferrero, G.B., Franco, B., Roth, E.J., Firulli, B.A., Borsani, G., Delmas-Mata, J., Weissenbach, J., Halley, G., Schlessinger, D., Chinault, A.C., Zoghbi, H.Y., Nelson, D.L. and Ballabio, A. (1995) An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum. Mol. Genet., 4, 1821-1827.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1821-1827
-
-
Ferrero, G.B.1
Franco, B.2
Roth, E.J.3
Firulli, B.A.4
Borsani, G.5
Delmas-Mata, J.6
Weissenbach, J.7
Halley, G.8
Schlessinger, D.9
Chinault, A.C.10
Zoghbi, H.Y.11
Nelson, D.L.12
Ballabio, A.13
-
15
-
-
0025938481
-
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
-
Franco, B., Guioli, S., Pragliola, A., Incerti, B., Bardoni, B., Tonlorenzi, R., Carrozzo, R., Maestrini, E., Pieretti, M., Taillon-Miller, P., Brown, C.J., Willard, H.F., Lawrence, C., Persico, M.G., Camerino, G. and Ballabio, A. (1991)A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature, 353, 529-536.
-
(1991)
Nature
, vol.353
, pp. 529-536
-
-
Franco, B.1
Guioli, S.2
Pragliola, A.3
Incerti, B.4
Bardoni, B.5
Tonlorenzi, R.6
Carrozzo, R.7
Maestrini, E.8
Pieretti, M.9
Taillon-Miller, P.10
Brown, C.J.11
Willard, H.F.12
Lawrence, C.13
Persico, M.G.14
Camerino, G.15
Ballabio, A.16
-
16
-
-
10144243975
-
The neuroradiology of Kallmann's syndrome, a genotypic and phenotypic analysis
-
Quinton, R., Duke, V.M., de Zoysa, P.A., Platts, A.D., Valentine, A., Kendall, B., Pickman, S., Kirk, J.M.W., Besser, G.M., Jacobs, H.S. and Bouloux, P.M.G. (1996) The neuroradiology of Kallmann's syndrome, a genotypic and phenotypic analysis. J. Clin. Endocrinol. Metab., 81, 3010-3017.
-
(1996)
J. Clin. Endocrinol. Metab.
, vol.81
, pp. 3010-3017
-
-
Quinton, R.1
Duke, V.M.2
De Zoysa, P.A.3
Platts, A.D.4
Valentine, A.5
Kendall, B.6
Pickman, S.7
Kirk, J.M.W.8
Besser, G.M.9
Jacobs, H.S.10
Bouloux, P.M.G.11
-
17
-
-
0029069331
-
KAL, a gene mutated in Kallman's syndrome, is expressed in the first trimester of human development
-
Duke, V.M., Winyard, P.J.D., Thorogood, P., Soothill, P., Bouloux, P.M.G. and Woolf, A.S. (1995) KAL, a gene mutated in Kallman's syndrome, is expressed in the first trimester of human development. Mol. Cell. Endocrinol., 110, 73-79.
-
(1995)
Mol. Cell. Endocrinol.
, vol.110
, pp. 73-79
-
-
Duke, V.M.1
Winyard, P.J.D.2
Thorogood, P.3
Soothill, P.4
Bouloux, P.M.G.5
Woolf, A.S.6
-
18
-
-
0025940669
-
The candidate gene for the X-linked Kallmann's syndrome encodes a protein related to adhesion mlecules
-
Legouis, R., Hardelin, J.P., Levilliers, J., Claverie, J.M., Compain, S., Wunderle, V., Millasseau, P., Le Paslier, D., Cohen, D., Caterina, D., Bouguerleret, L., Delamarre-Van de Waal, H., Lutfalla, G., Weissenbach, J. and Petit, C. (1991) The candidate gene for the X-linked Kallmann's syndrome encodes a protein related to adhesion mlecules. Cell, 67, 423-435.
-
(1991)
Cell
, vol.67
, pp. 423-435
-
-
Legouis, R.1
Hardelin, J.P.2
Levilliers, J.3
Claverie, J.M.4
Compain, S.5
Wunderle, V.6
Millasseau, P.7
Le Paslier, D.8
Cohen, D.9
Caterina, D.10
Bouguerleret, L.11
Delamarre-Van De Waal, H.12
Lutfalla, G.13
Weissenbach, J.14
Petit, C.15
-
19
-
-
0028219321
-
A gene from the Xp22.3 region shares homology with voltage gated chloride channels
-
Van Slegtenhorst, M.A., Bassi, M.T., Borasni, G., Wapenaar, M.C., Ferrero, G.B., de Conciliis, L, Rugarli, E.I., Grillo, A., Franco, B., Zoghbi, H.Y. and Ballabio, A. (1994) A gene from the Xp22.3 region shares homology with voltage gated chloride channels. Hum. Mol. Genet., 3, 547-552.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 547-552
-
-
Van Slegtenhorst, M.A.1
Bassi, M.T.2
Borasni, G.3
Wapenaar, M.C.4
Ferrero, G.B.5
De Conciliis, L.6
Rugarli, E.I.7
Grillo, A.8
Franco, B.9
Zoghbi, H.Y.10
Ballabio, A.11
-
20
-
-
0028907718
-
Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region
-
Schiaffino, M.V., Bassi, M.T., Rugarli, E.I., Chapman, V. and Ballabio, A. (1995) Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum. Mol. Genet., 4, 373-382.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 373-382
-
-
Schiaffino, M.V.1
Bassi, M.T.2
Rugarli, E.I.3
Chapman, V.4
Ballabio, A.5
-
21
-
-
0028788756
-
Cloning and characterisation of CLCN5, the human kidney chloride channel gene implicated in Dent's disease an X-linked hereditary nephrolithiasis
-
Fisher, S.E., Van Baker, I., Lloyd, S.E., Pearce, S.H.S., Thakker, R.V. and Craig, I.W. (1995) Cloning and characterisation of CLCN5, the human kidney chloride channel gene implicated in Dent's disease (an X-linked hereditary nephrolithiasis. Genomics, 29, 598-606.
-
(1995)
Genomics
, vol.29
, pp. 598-606
-
-
Fisher, S.E.1
Van Baker, I.2
Lloyd, S.E.3
Pearce, S.H.S.4
Thakker, R.V.5
Craig, I.W.6
-
22
-
-
8544230293
-
PKD2, a gene for polycystic kidney disease encodes an integral membrane protein
-
Mochizuki, T., Wu, G. and Hayashi, T. (1996) PKD2, a gene for polycystic kidney disease encodes an integral membrane protein. Science, 212, 1333-1342.
-
(1996)
Science
, vol.212
, pp. 1333-1342
-
-
Mochizuki, T.1
Wu, G.2
Hayashi, T.3
-
23
-
-
0019306096
-
X-linked polydactyly (Xpl). A new mutation in the mouse
-
Sweet, H.O. and Lane, P.W. (1980) X-linked polydactyly (Xpl). a new mutation in the mouse. J. Hered., 7, 207-209.
-
(1980)
J. Hered.
, vol.7
, pp. 207-209
-
-
Sweet, H.O.1
Lane, P.W.2
-
24
-
-
0020326332
-
Cystic kidneys in a patient with the oral-facial-digital syndrome type 1
-
Stapleton, F.B., Bernstein, J., Koh, G., Roy, S.,III and Wilroy, R.S. (1982) Cystic kidneys in a patient with the oral-facial-digital syndrome type 1. Am. J. Kidney Dis., 1, 288-293.
-
(1982)
Am. J. Kidney Dis.
, vol.1
, pp. 288-293
-
-
Stapleton, F.B.1
Bernstein, J.2
Koh, G.3
Roy III, S.4
Wilroy, R.S.5
-
25
-
-
0001864843
-
Extraction of nucleic acid from fresh and archival material
-
In McPherson, M.J., Quirke, P. and Taylor, G.R. (eds), Oxford University Press, Oxford
-
Jackson, D.P., Hayden, J.D. and Quirke, P (1993) Extraction of nucleic acid from fresh and archival material. In McPherson, M.J., Quirke, P. and Taylor, G.R. (eds), PCR: A Practical Approach. Oxford University Press, Oxford, pp. 29-50.
-
(1993)
PCR: A Practical Approach
, pp. 29-50
-
-
Jackson, D.P.1
Hayden, J.D.2
Quirke, P.3
-
26
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J. and Weissenbach,J. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature, 380, 1-129.
-
(1996)
Nature
, vol.380
, pp. 1-129
-
-
Dib, C.1
Faure, 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
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