-
1
-
-
0017806341
-
Moebius syndrome, peripheral neuropathy and hypogonadotropic hypogonadism
-
Abid F, Hall R, Hudgson P, Weiser R. 1978. Moebius syndrome, peripheral neuropathy and hypogonadotropic hypogonadism. J Neurol Sci 35:309-315.
-
(1978)
J Neurol Sci
, vol.35
, pp. 309-315
-
-
Abid, F.1
Hall, R.2
Hudgson, P.3
Weiser, R.4
-
2
-
-
0024802646
-
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
-
Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G. 1989. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. PNAS 86:10001-10005.
-
(1989)
PNAS
, vol.86
, pp. 10001-10005
-
-
Ballabio, A.1
Bardoni, B.2
Carrozzo, R.3
Andria, G.4
Bick, D.5
Campbell, L.6
Hamel, B.7
Ferguson-Smith, M.A.8
Gimelli, G.9
Fraccaro, M.10
Maraschio, P.11
Zuffardi, O.12
Guioli, S.13
Camerino, G.14
-
3
-
-
0002846346
-
-
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The inherited basis of metabolic disease. 7th Edn. New York: McGraw Hill
-
Ballabio A, Zoghbi HY. 1995. In: Kallman syndrome. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The inherited basis of metabolic disease. 7th Edn. New York: McGraw Hill. pp 4549-4557.
-
(1995)
Kallman Syndrome
, pp. 4549-4557
-
-
Ballabio, A.1
Zoghbi, H.Y.2
-
4
-
-
0017620817
-
Genetics of the Moebius syndrome
-
Baraitser M. 1977. Genetics of the Moebius syndrome. J Med Genet 14:415-417.
-
(1977)
J Med Genet
, vol.14
, pp. 415-417
-
-
Baraitser, M.1
-
5
-
-
0029763489
-
Moebius syndrome, an axonal neuropathy and hypogonadism
-
Baraitser M, Rudge P. 1996. Moebius syndrome, an axonal neuropathy and hypogonadism. Clin Dysmorph 5:351-355.
-
(1996)
Clin Dysmorph
, vol.5
, pp. 351-355
-
-
Baraitser, M.1
Rudge, P.2
-
6
-
-
0026642442
-
Intragenic deletion of the KALIG-1 gene in Kallman's syndrome
-
Bick D, Franco B, Sherins RJ, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A. 1992. Intragenic deletion of the KALIG-1 gene in Kallman's syndrome. NEJM 326:1752-1755.
-
(1992)
NEJM
, vol.326
, pp. 1752-1755
-
-
Bick, D.1
Franco, B.2
Sherins, R.J.3
Heye, B.4
Pike, L.5
Crawford, J.6
Maddalena, A.7
Incerti, B.8
Pragliola, A.9
Meitinger, T.10
Ballabio, A.11
-
7
-
-
0025745159
-
Moebius sequence in association with hypogonadotrophic hypogonadism (case report)
-
Brackett LE, Demers LM, Mamourian AC, Ellenberger C Jr, Santen RJ. 1991. Moebius sequence in association with hypogonadotrophic hypogonadism (case report). J Endocrinol Invest 14:599-607.
-
(1991)
J Endocrinol Invest
, vol.14
, pp. 599-607
-
-
Brackett, L.E.1
Demers, L.M.2
Mamourian, A.C.3
Ellenberger C., Jr.4
Santen, R.J.5
-
8
-
-
0018341156
-
Congenital facial diplegia (Mobius syndrome) and diabetes insipidus: Case report
-
Engler RJM, Oetgen WJ, Hyman LR. 1979. Congenital facial diplegia (Mobius syndrome) and diabetes insipidus: Case report. Mil Med 144:117-120.
-
(1979)
Mil Med
, vol.144
, pp. 117-120
-
-
Engler, R.J.M.1
Oetgen, W.J.2
Hyman, L.R.3
-
9
-
-
0036285444
-
The neuroendocrinology of human puberty revisited
-
Grumbach MM. 2002. The neuroendocrinology of human puberty revisited. Horm Res 57(Suppl 2):2-14.
-
(2002)
Horm Res
, vol.57
, Issue.SUPPL. 2
, pp. 2-14
-
-
Grumbach, M.M.1
-
10
-
-
0025191855
-
The syndrome of Moebius sequence, peripheral neuropathy and hypogonadotrophic hypogonadism
-
Kawai M, Momoi T, Fujii T, Nakano S, Itagaki Y, Mikawa H. 1990. The syndrome of Moebius sequence, peripheral neuropathy and hypogonadotrophic hypogonadism. Am J Med Genet 37:578-582.
-
(1990)
Am J Med Genet
, vol.37
, pp. 578-582
-
-
Kawai, M.1
Momoi, T.2
Fujii, T.3
Nakano, S.4
Itagaki, Y.5
Mikawa, H.6
-
11
-
-
0026026924
-
Oculofacialbulbar palsy in mother and son: Review of 26 reports of familial transmission within the "Mobius spectrum of defects."
-
MacDermott KD, Winter RM, Taylor D, Baraitser M. 1991. Oculofacialbulbar palsy in mother and son: Review of 26 reports of familial transmission within the "Mobius spectrum of defects." J Med Genet 28:18-26.
-
(1991)
J Med Genet
, vol.28
, pp. 18-26
-
-
MacDermott, K.D.1
Winter, R.M.2
Taylor, D.3
Baraitser, M.4
-
12
-
-
0020005003
-
Moebius-like syndrome due to multiple cerebral abnormalities including hypoplasia of descending tracts: A case report
-
Nardelli E, Vio M, Ghersini L, Rizzuto N. 1982. Moebius-like syndrome due to multiple cerebral abnormalities including hypoplasia of descending tracts: A case report. J Neurol 227:11-19.
-
(1982)
J Neurol
, vol.227
, pp. 11-19
-
-
Nardelli, E.1
Vio, M.2
Ghersini, L.3
Rizzuto, N.4
-
14
-
-
0014865729
-
Lower motor neuron involvement and hypogonadotrophic hypogonadism
-
Olsen WH, Bardin CW, Walsh GO, Engel WK. 1970. Lower motor neuron involvement and hypogonadotrophic hypogonadism. Neurology 20:1002-1008.
-
(1970)
Neurology
, vol.20
, pp. 1002-1008
-
-
Olsen, W.H.1
Bardin, C.W.2
Walsh, G.O.3
Engel, W.K.4
-
15
-
-
0024260887
-
Normal neonatal surge of gonadotrophins and sex steroids in infants of men with isolated hypogonadotrophic hypogonadism
-
Rose SR, Cassorla F, Sherins RJ. 1988. Normal neonatal surge of gonadotrophins and sex steroids in infants of men with isolated hypogonadotrophic hypogonadism. Clin Endocrinol 29:577-582.
-
(1988)
Clin Endocrinol
, vol.29
, pp. 577-582
-
-
Rose, S.R.1
Cassorla, F.2
Sherins, R.J.3
-
16
-
-
0016529182
-
Moebius syndrome in association with peripheral neuropathy and Kallmann syndrome
-
Rubinstein AE, Lovelace RE, Behrens MM, Weisberg LA. 1975. Moebius syndrome in association with peripheral neuropathy and Kallmann syndrome. Arch Neurol 32:480-482.
-
(1975)
Arch Neurol
, vol.32
, pp. 480-482
-
-
Rubinstein, A.E.1
Lovelace, R.E.2
Behrens, M.M.3
Weisberg, L.A.4
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