-
1
-
-
0023917651
-
International nosology of heritable disorders of connective tissue, Berlin, 1986
-
Tsipouras P, Viljoen D, Winship I, Young ID (1988). International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29:581-594.
-
(1988)
Am J Med Genet
, vol.29
, pp. 581-594
-
-
Beighton, P.1
De Paepe, A.2
Danks, D.3
Finidori, G.4
Gedde-Dahl, T.5
Goodman, R.6
Hall, J.G.7
Hollister, D.W.8
Horton, W.9
McKusick, V.A.10
Opitz, J.M.11
Pope, F.M.12
Pyeritz, R.E.13
Rimoin, D.L.14
Sillence, D.15
Spranger, J.W.16
Thompson, B.17
Tsipouras, P.18
Viljoen, D.19
Winship, I.20
Young, I.D.21
more..
-
3
-
-
0031052386
-
The mottled mouse as a model for human Menkes disease: Identification of mutations in the ATP7A gene
-
Cecchi C, Biasotto M, Tosi M, Avner P (1997). The mottled mouse as a model for human Menkes disease: identification of mutations in the ATP7A gene. Hum Molec Genet 6:425-433.
-
(1997)
Hum Molec Genet
, vol.6
, pp. 425-433
-
-
Cecchi, C.1
Biasotto, M.2
Tosi, M.3
Avner, P.4
-
4
-
-
0028957864
-
Similar splicing mutations of the Menkes/Mottled copper transporting ATPase gene in Occipital Horn syndrome and the Blotchy mouse
-
Das S. Levinson B, Vulpe C, Whitney S, Gitschier J, Packman S (1995). Similar splicing mutations of the Menkes/Mottled copper transporting ATPase gene in Occipital Horn syndrome and the Blotchy mouse. Am J Hum Genet 56:570-576.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 570-576
-
-
Das, S.1
Levinson, B.2
Vulpe, C.3
Whitney, S.4
Gitschier, J.5
Packman, S.6
-
5
-
-
0014293393
-
Dwarfism, oligophrenia and degeneration of the elastic tissue in the skin and cornea
-
De Barsy AM, Moens E, Dierckx L. (1968). Dwarfism, oligophrenia and degeneration of the elastic tissue in the skin and cornea. A new syndrome? Helv Paediatr Acta 23:305-313.
-
(1968)
A New Syndrome? Helv Paediatr Acta
, vol.23
, pp. 305-313
-
-
De Barsy, A.M.1
Moens, E.2
Dierckx, L.3
-
6
-
-
0026671327
-
Occipital Horn syndrome. Additional radiographic findings in two new cases
-
Herman T, Mc Alister W, Boniface A, Whyte MP (1992). Occipital Horn syndrome. Additional radiographic findings in two new cases. Pediatr Radiol 22:363-365.
-
(1992)
Pediatr Radiol
, vol.22
, pp. 363-365
-
-
Herman, T.1
Mc Alister, W.2
Boniface, A.3
Whyte, M.P.4
-
7
-
-
0023725929
-
Is geroderma osteodysplatica under-diagnosed?
-
Hunter AGW (1988). Is geroderma osteodysplatica under-diagnosed? J Med Genet 25, 854-857.
-
(1988)
J Med Genet
, vol.25
, pp. 854-857
-
-
Hunter, A.G.W.1
-
8
-
-
0028017998
-
Occipital Horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
-
Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA (1994). Occipital Horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genet 8:195-202.
-
(1994)
Nature Genet
, vol.8
, pp. 195-202
-
-
Kaler, S.G.1
Gallo, L.K.2
Proud, V.K.3
Percy, A.K.4
Mark, Y.5
Segal, N.A.6
Goldstein, D.S.7
Holmes, C.S.8
Gahl, W.A.9
-
9
-
-
0020078101
-
Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder
-
Kuivaniemi H, Peltonen L., Palotie A, Kaitila I, Kivirikko KI (1982). Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder. J Clin Invest 69:730-733.
-
(1982)
J Clin Invest
, vol.69
, pp. 730-733
-
-
Kuivaniemi, H.1
Peltonen, L.2
Palotie, A.3
Kaitila, I.4
Kivirikko, K.I.5
-
10
-
-
0016762389
-
Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy: A new hereditary syndrome
-
Lazoff S, Rybak JJ, Parker BR, Luzzatti L (1975). Skeletal dysplasia, occipital horns, intestinal malabsorption, and obstructive uropathy: a new hereditary syndrome. Birth Defects Orig Art Ser XI:71-74.
-
(1975)
Birth Defects Orig Art Ser
, vol.11
, pp. 71-74
-
-
Lazoff, S.1
Rybak, J.J.2
Parker, B.R.3
Luzzatti, L.4
-
11
-
-
0029836981
-
A repeated clement in the regulatory region of the MNK gene and its deletion in a patient with Occipital Horn syndrome
-
Levinson B, Conant R, Schnur R, Das S, Packmans S, Gitschier J (1996). A repeated clement in the regulatory region of the MNK gene and its deletion in a patient with Occipital Horn syndrome. Hum Molec Genet 5:1737-1742.
-
(1996)
Hum Molec Genet
, vol.5
, pp. 1737-1742
-
-
Levinson, B.1
Conant, R.2
Schnur, R.3
Das, S.4
Packmans, S.5
Gitschier, J.6
-
13
-
-
0029792846
-
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
-
Proud V, Mussell H, Kaler S, Young D, Percey A (1996). Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype. Am J Med Genet 65:44-51.
-
(1996)
Am J Med Genet
, vol.65
, pp. 44-51
-
-
Proud, V.1
Mussell, H.2
Kaler, S.3
Young, D.4
Percey, A.5
-
14
-
-
0031048445
-
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease
-
Reed V, Boyd Y (1997). Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Hum Molec Genet 63:417-423.
-
(1997)
Hum Molec Genet
, vol.63
, pp. 417-423
-
-
Reed, V.1
Boyd, Y.2
-
15
-
-
0028009672
-
Occipital Horn syndrome: Report of a patient and review of the literature
-
Tsukahara M, Imaizumi K, Kawai S, Kajii T (1994). Occipital Horn syndrome: report of a patient and review of the literature. Clin Genet 45:32-35.
-
(1994)
Clin Genet
, vol.45
, pp. 32-35
-
-
Tsukahara, M.1
Imaizumi, K.2
Kawai, S.3
Kajii, T.4
-
16
-
-
0030928379
-
Menkes disease: Recent advances and new aspects
-
Tümer Z, Horn N (1997). Menkes disease: recent advances and new aspects. J Med Genet 34:265-274.
-
(1997)
J Med Genet
, vol.34
, pp. 265-274
-
-
Tümer, Z.1
Horn, N.2
-
17
-
-
0027446365
-
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase
-
Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J (1996). Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genet 3:7-13.
-
(1996)
Nature Genet
, vol.3
, pp. 7-13
-
-
Vulpe, C.1
Levinson, B.2
Whitney, S.3
Packman, S.4
Gitschier, J.5
|