-
1
-
-
50049104212
-
X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits
-
Kent L, Emerton J, Bhadravathi V, et al. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits. J Med Genet. 2008;45(8): 519-524.
-
(2008)
J Med Genet
, vol.45
, Issue.8
, pp. 519-524
-
-
Kent, L.1
Emerton, J.2
Bhadravathi, V.3
-
2
-
-
0020615615
-
Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism
-
Traupe H, Happle R. Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism. Eur J Pediatr. 1983; 140(1):19-21. (Pubitemid 13121996)
-
(1983)
European Journal of Pediatrics
, vol.140
, Issue.1
, pp. 19-21
-
-
Traupe, H.1
Happle, R.2
-
3
-
-
0026895136
-
Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses
-
Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet. 1992; 1(4):221-227.
-
(1992)
Hum Mol Genet
, vol.1
, Issue.4
, pp. 221-227
-
-
Ballabio, A.1
Andria, G.2
-
4
-
-
0027291742
-
A high resolution deletion map of human chromosome Xp22
-
DOI 10.1038/ng0793-272
-
Schaefer L, Ferrero GB, Grillo A, et al. A high resolution deletion map of human chromosome Xp22. Nat Genet. 1993;4(3):272-279. (Pubitemid 23205176)
-
(1993)
Nature Genetics
, vol.4
, Issue.3
, pp. 272-279
-
-
Schaefer, L.1
Ferrero, G.B.2
Grillo, A.3
Bassi, M.T.4
Roth, E.J.5
Wapenaar, M.C.6
Van Ommen, G.-J.B.7
Mohandas, T.K.8
Rocchi, M.9
Zoghbi, H.Y.10
Ballabio, A.11
-
5
-
-
0033857993
-
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy
-
Gohlke BC, Haug K, Fukami M, et al. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. J Med Genet. 2000; 37(8):600-602. (Pubitemid 30604098)
-
(2000)
Journal of Medical Genetics
, vol.37
, Issue.8
, pp. 600-602
-
-
Gohlke, B.C.1
Haug, K.2
Fukami, M.3
Friedl, W.4
Noeker, M.5
Rappold, G.A.6
Haverkamp, F.7
-
6
-
-
0019947013
-
Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy
-
Larbrisseau A, Carpenter St. Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy. Neuropediatrics. 1982;13(2):95-98. (Pubitemid 12082440)
-
(1982)
Neuropediatrics
, vol.13
, Issue.2
, pp. 95-98
-
-
Labrisseau, A.1
Carpenter, S..2
-
7
-
-
77952700774
-
Revised nomenclature and classification of inherited ichthyoses: Results of the first ichthyosis consensus conference in Sorèze, 2009
-
Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Sorèze, 2009 J Am Acad Dermatol. 2010;63(4):607-641.
-
(2010)
J Am Acad Dermatol
, vol.63
, Issue.4
, pp. 607-641
-
-
Oji, V.1
Tadini, G.2
Akiyama, M.3
-
8
-
-
62949190370
-
Diffusion tensor imaging: The normal evolution of ADC, RA, FA, and eigenvalues studied in multiple anatomical regions of the brain
-
Löbel U, Sedlacik J, Güllmar D, Kaiser WA, Reichenbach JR, Mentzel HJ. Diffusion tensor imaging: the normal evolution of ADC, RA, FA, and eigenvalues studied in multiple anatomical regions of the brain. Neuroradiology. 2009;51(4): 253-263.
-
(2009)
Neuroradiology
, vol.51
, Issue.4
, pp. 253-263
-
-
Löbel, U.1
Sedlacik, J.2
Güllmar, D.3
Kaiser, W.A.4
Reichenbach, J.R.5
Mentzel, H.J.6
-
9
-
-
18144375214
-
Diagnostic value of diffusion-weighted magnetic resonance imaging in pediatric cerebral diseases
-
DOI 10.1016/j.pediatrneurol.2004.12.007
-
Oksuzler YF, Cakmakci H, Kurul S, Oksuzler M, Dirik E. Diagnostic value of diffusion-weighted magnetic resonance imaging in pediatric cerebral diseases. Pediatr Neurol. 2005;32(5):325-333. (Pubitemid 40615340)
-
(2005)
Pediatric Neurology
, vol.32
, Issue.5
, pp. 325-333
-
-
Oksuzler, Y.F.1
Cakmakci, H.2
Kurul, S.3
Oksuzler, M.4
Dirik, E.5
-
10
-
-
0019457801
-
X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers
-
DOI 10.1111/j.1365-2230.1981.tb02284.x
-
Garcia Perez A, Crespo M. X-linked ichthyosis associated with hypertrophic pyloric stenosis in three brothers. Clin Exp Dermatol. 1981;6(2):159-161. (Pubitemid 11056760)
-
(1981)
Clinical and Experimental Dermatology
, vol.6
, Issue.2
, pp. 159-161
-
-
Garcia, P.A.1
Crespo, M.2
-
11
-
-
44949184519
-
Rufinamide for generalized seizures associated with Lennox-Gastaut syndrome
-
Glauser T, Kluger G, Sachdeo R, Krauss G, Perdomo C, Arroyo S. Rufinamide for generalized seizures associated with Lennox-Gastaut syndrome. Neurology. 2008;70(21):1950-1958.
-
(2008)
Neurology
, vol.70
, Issue.21
, pp. 1950-1958
-
-
Glauser, T.1
Kluger, G.2
Sachdeo, R.3
Krauss, G.4
Perdomo, C.5
Arroyo, S.6
-
12
-
-
0346882728
-
Hemimegalencephaly: Part 2. Neuropathology suggests a disorder of cellular lineage
-
Flores-Sarnat L, Sarnat HB, Dávila-Gutiérrez G, Alvarez A. Hemimegalencephaly: part 2: neuropathology suggests a disorder of cellular lineage. J Child Neurol. 2003;18(11):776-785. (Pubitemid 38016571)
-
(2003)
Journal of Child Neurology
, vol.18
, Issue.11
, pp. 776-785
-
-
Flores-Sarnat, L.1
Sarnat, H.B.2
Davila-Gutierrez, G.3
Alvarez, A.4
-
13
-
-
0033938123
-
Evidence for a new locus for X-linked retinitis pigmentosa (RP23)
-
Hardcastle AJ, Thiselton DL, Zito I, et al. Evidence for a new locus for X-linked retinitis pigmentosa (RP23). Invest Ophthalmol Vis Sci. 2000;41(8):2080-2086. (Pubitemid 30450977)
-
(2000)
Investigative Ophthalmology and Visual Science
, vol.41
, Issue.8
, pp. 2080-2086
-
-
Hardcastle, A.J.1
Thiselton, D.L.2
Zito, I.3
Ebenezer, N.4
Mah, T.S.5
Gorin, M.B.6
Bhattacharya, S.S.7
-
14
-
-
0033843150
-
A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation
-
DOI 10.1086/303047
-
Fukami M, Kirsch S, Schiller S, et al. Amember of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. Am J Hum Genet. 2000;67(3):563-573. (Pubitemid 30659587)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.3
, pp. 563-573
-
-
Fukami, M.1
Kirsch, S.2
Schiller, S.3
Richter, A.4
Benes, V.5
Franco, B.6
Muroya, K.7
Rao, E.8
Merker, S.9
Niesler, B.10
Ballabio, A.11
Ansorge, W.12
Ogata, T.13
Rappold, G.A.14
-
15
-
-
33947668880
-
Deletions of VCX-A and NLGN4: A variable phenotype including normal intellect
-
DOI 10.1111/j.1365-2788.2006.00880.x
-
Macarov M, Zeigler M, Newman JP, et al. Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect. J Intellect Disabil Res. 2007;51(pt 5): 329-333. (Pubitemid 46502067)
-
(2007)
Journal of Intellectual Disability Research
, vol.51
, Issue.5
, pp. 329-333
-
-
Macarov, M.1
Zeigler, M.2
Newman, J.P.3
Strich, D.4
Sury, V.5
Tennenbaum, A.6
Meiner, V.7
-
16
-
-
39049156843
-
Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis
-
DOI 10.1111/j.1365-2133.2007.08373.x
-
Cuevas-Covarrubias SA, González-Huerta LM. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis. Br J Dermatol. 2008;158(3):483-486. (Pubitemid 351239171)
-
(2008)
British Journal of Dermatology
, vol.158
, Issue.3
, pp. 483-486
-
-
Cuevas-Covarrubias, S.A.1
Gonzalez-Huerta, L.M.2
-
17
-
-
38549158659
-
Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes
-
DOI 10.1016/j.ejmg.2007.11.002, PII S1769721207001206
-
Mochel F, Missirian C, Reynaud R, Moncla A. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes. Eur J Med Genet. 2008;51(1):68-73. (Pubitemid 351163187)
-
(2008)
European Journal of Medical Genetics
, vol.51
, Issue.1
, pp. 68-73
-
-
Mochel, F.1
Missirian, C.2
Reynaud, R.3
Moncla, A.4
-
18
-
-
79960899205
-
Rud syndrome with focal cortical dysplasia: A case report
-
published online November 11, 2010
-
Marconi S, Cantalupo G, Marliani F, et al. Rud syndrome with focal cortical dysplasia: a case report [published online November 11, 2010]. Brain Dev. 2010.
-
(2010)
Brain Dev
-
-
Marconi, S.1
Cantalupo, G.2
Marliani, F.3
-
19
-
-
0020633820
-
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature
-
DOI 10.1007/BF00445661
-
Münke M, Kruse K, Goos M, Ropers HH, Tolksdorf M. Genetic heterogeneity of the ichthyosis, hypogonadism,mental retardation, and epilepsy syndrome: clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. Eur J Pediatr. 1983;141(1):8-13. (Pubitemid 13007069)
-
(1983)
European Journal of Pediatrics
, vol.141
, Issue.1
, pp. 8-13
-
-
Munke, M.1
Kruse, K.2
Goos, M.3
-
20
-
-
84855983334
-
Ichthyosis and hypogonadism: Reflections on the so-called Rud's syndrome
-
Traupe H, Melnik B, eds. New York, NY: Springer-Verlag
-
Traupe H. Ichthyosis and hypogonadism: reflections on the so-called Rud's syndrome. In: Traupe H, Melnik B, eds. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. New York, NY: Springer-Verlag; 1989: 91-97.
-
(1989)
The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy
, pp. 91-97
-
-
Traupe, H.1
-
21
-
-
36248957531
-
Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis
-
DOI 10.1038/sj.jid.5700971, PII 5700971
-
Liao H, Waters AJ, Goudie DR, et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007;127(12): 2795-2798. (Pubitemid 350134826)
-
(2007)
Journal of Investigative Dermatology
, vol.127
, Issue.12
, pp. 2795-2798
-
-
Liao, H.1
Waters, A.J.2
Goudie, D.R.3
Aitken, D.A.4
Graham, G.5
Smith, F.J.D.6
Lewis-Jones, S.7
McLean, W.H.I.8
-
22
-
-
0029872469
-
Brittle and sparse hair with normal cystine content caused by methionine deficiency?
-
Goerz G, Behrens W, Megahed M, et al. Brittle and sparse hair with normal cystine content caused by methionine deficiency? Acta Derm Venereol. 1996; 76(1):62-64. (Pubitemid 26088624)
-
(1996)
Acta Dermato-Venereologica
, vol.76
, Issue.1
, pp. 62-64
-
-
Goerz, G.1
Behrens, W.2
Megahed, M.3
Kuester, W.4
Fohles, J.5
Tsambaos, D.6
Nikiforidis, G.7
Balas, C.8
-
23
-
-
0025886852
-
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
-
Kvedar JC, Baden HP, Baden LA, Shih VE, Kolodny EH. Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency. Am J Med Genet. 1991;40(2):211-213.
-
(1991)
Am J Med Genet.
, vol.40
, Issue.2
, pp. 211-213
-
-
Kvedar, J.C.1
Baden, H.P.2
Baden, L.A.3
Shih, V.E.4
Kolodny, E.H.5
-
24
-
-
0022980777
-
Polarization microscopy of hair in acrodermatitis enteropathica
-
Traupe H, Happle R, Gröbe H, Bertram HP. Polarization microscopy of hair in acrodermatitis enteropathica. Pediatr Dermatol. 1986;3(4):300-303. (Pubitemid 17199324)
-
(1986)
Pediatric Dermatology
, vol.3
, Issue.4
, pp. 300-303
-
-
Traupe, H.1
Happle, R.2
Grobe, H.3
Bertram, H.P.4
-
25
-
-
49349100427
-
Trichothiodystrophylike hair abnormalities in a child with keratitis ichthyosis deafness syndrome
-
De Raeve L, Bonduelle M, Deconinck H, Roseeuw D, Stene JJ. Trichothiodystrophylike hair abnormalities in a child with keratitis ichthyosis deafness syndrome. Pediatr Dermatol. 2008;25(4):466-469.
-
(2008)
Pediatr Dermatol.
, vol.25
, Issue.4
, pp. 466-469
-
-
De Raeve, L.1
Bonduelle, M.2
Deconinck, H.3
Roseeuw, D.4
Stene, J.J.5
-
26
-
-
0035110353
-
Pseudopili annulati in a dark-haired individual: A light and electron microscopic study
-
Lee SS, Lee YS, Giam YC. Pseudopili annulati in a dark-haired individual: a light and electron microscopic study. Pediatr Dermatol. 2001;18(1):27-30.
-
(2001)
Pediatr Dermatol.
, vol.18
, Issue.1
, pp. 27-30
-
-
Lee, S.S.1
Lee, Y.S.2
Giam, Y.C.3
-
27
-
-
0030796251
-
'Tiger tail' pattern on polarized hair microscopic examination is found in healthy infants
-
de Berker D. 'Tiger tail' pattern on polarized hair microscopic examination is found in healthy infants. Arch Dermatol. 1997;133(10):1313-1314.
-
(1997)
Arch Dermatol.
, vol.133
, Issue.10
, pp. 1313-1314
-
-
De Berker, D.1
-
28
-
-
0141484680
-
"Curly" wood and tiger tails: An explanation for light and dark banding with polarization in trichothiodystrophy
-
DOI 10.1001/archderm.139.9.1189
-
Sperling LC, DiGiovanna JJ. "Curly" wood and tiger tails: an explanation for light and dark banding with polarization in trichothiodystrophy. Arch Dermatol. 2003; 139(9):1189-1192. (Pubitemid 37128382)
-
(2003)
Archives of Dermatology
, vol.139
, Issue.9
, pp. 1189-1192
-
-
Sperling, L.C.1
DiGiovanna, J.J.2
|