-
1
-
-
0025017752
-
Two 46, XX,t(X;Y) females with linear skin defects and congenital micropthalmia: A new syndrome at Xp22.3
-
Al-Gazali LI, Mueller RF, Caine A et al. Two 46, XX,t(X;Y) females with linear skin defects and congenital micropthalmia: a new syndrome at Xp22.3. J Med Genet 1990 27 : 59 63.
-
(1990)
J Med Genet
, vol.27
, pp. 59-63
-
-
Al-Gazali, L.I.1
Mueller, R.F.2
Caine, A.3
-
2
-
-
0027372722
-
Midas syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome
-
Happle R, Daniels O, Koopman RJJ. Midas syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 1993 47 : 710 713.
-
(1993)
Am J Med Genet
, vol.47
, pp. 710-713
-
-
Happle, R.1
Daniels, O.2
Koopman, R.J.J.3
-
3
-
-
12444321555
-
Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome
-
Enright F, Campbell P, Stallings RL et al. Xp22.3 microdeletion in a 19-year-old girl with clinical features of MLS syndrome. Pediatr Dermatol 2003 20 : 153 157.
-
(2003)
Pediatr Dermatol
, vol.20
, pp. 153-157
-
-
Enright, F.1
Campbell, P.2
Stallings, R.L.3
-
4
-
-
0031779998
-
Reticulolinear aplasia cutis congenita of the face and neck: A distinctive cutaneous manifestation in several syndromes linked to Xp22
-
Zvulunov A, Kachko L, Manor E et al. Reticulolinear aplasia cutis congenita of the face and neck: a distinctive cutaneous manifestation in several syndromes linked to Xp22. Br J Dermatol 1998 138 : 1046 1052.
-
(1998)
Br J Dermatol
, vol.138
, pp. 1046-1052
-
-
Zvulunov, A.1
Kachko, L.2
Manor, E.3
-
5
-
-
3342879405
-
Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea)
-
Cape CJ, Zaidman GW, Beck AD et al. Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). Arch Ophthalmol 2004 122 : 1070 1074.
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 1070-1074
-
-
Cape, C.J.1
Zaidman, G.W.2
Beck, A.D.3
-
6
-
-
0001232401
-
Provisional mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31
-
Friedman PA, Rao KW, Teplin SW et al. Provisional mapping of the focal dermal hypoplasia (FDH) gene to Xp22.31. Am J Hum Genet 1988 43 (suppl. A50.
-
(1988)
Am J Hum Genet
, vol.4350
-
-
Friedman, P.A.1
Rao, K.W.2
Teplin, S.W.3
-
7
-
-
0025012907
-
De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies
-
Temple IK, Hurst JA, Hing S et al. De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies. J Med Genet 1990 27 : 56 58.
-
(1990)
J Med Genet
, vol.27
, pp. 56-58
-
-
Temple, I.K.1
Hurst, J.A.2
Hing, S.3
-
8
-
-
0025980080
-
Linear skin defects and congenital micropthalmia: A new syndrome at Xp22.2
-
Allanson J, Richter S. Linear skin defects and congenital micropthalmia: a new syndrome at Xp22.2. J Med Genet 1991 28 : 143 144.
-
(1991)
J Med Genet
, vol.28
, pp. 143-144
-
-
Allanson, J.1
Richter, S.2
-
9
-
-
0004821615
-
Further delineation of the Xp22.2-pter syndrome of linear skin lesions, microphthalmia and anterior chamber eye abnormalities
-
Gericke GS, Myburgh E, Bester R et al. Further delineation of the Xp22.2-pter syndrome of linear skin lesions, microphthalmia and anterior chamber eye abnormalities. Am J Hum Genet 1991 49 (suppl. A271.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.SUPPL.
-
-
Gericke, G.S.1
Myburgh, E.2
Bester, R.3
-
10
-
-
0026687309
-
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects and congenital heart defects
-
Lindor NM, Michels VV, Hoppe DA et al. Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects and congenital heart defects. Am J Med Genet 1992 44 : 61 65.
-
(1992)
Am J Med Genet
, vol.44
, pp. 61-65
-
-
Lindor, N.M.1
Michels, V.V.2
Hoppe, D.A.3
-
11
-
-
0026764396
-
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?
-
Naritomi K, Izumikawa Y, Nagataki S et al. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome? Am J Med Genet 1992 43 : 839 843.
-
(1992)
Am J Med Genet
, vol.43
, pp. 839-843
-
-
Naritomi, K.1
Izumikawa, Y.2
Nagataki, S.3
-
12
-
-
0027958509
-
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization
-
Lindsay EA, Grillo A, Ferrero GB et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. Am J Med Genet 1994 49 : 229 234.
-
(1994)
Am J Med Genet
, vol.49
, pp. 229-234
-
-
Lindsay, E.A.1
Grillo, A.2
Ferrero, G.B.3
-
13
-
-
0028060586
-
Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1
-
Eng A, Lebel RR, Elejalde BR et al. Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1. J Am Acad Dermatol 1994 31 : 680 682.
-
(1994)
J Am Acad Dermatol
, vol.31
, pp. 680-682
-
-
Eng, A.1
Lebel, R.R.2
Elejalde, B.R.3
-
14
-
-
0027944925
-
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?
-
Bird LM, Krous HF, Eichenfield LF et al. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? Am J Med Genet 1994 53 : 141 148.
-
(1994)
Am J Med Genet
, vol.53
, pp. 141-148
-
-
Bird, L.M.1
Krous, H.F.2
Eichenfield, L.F.3
-
15
-
-
0029650340
-
MIDAS syndrome respectively MLS syndrome: A separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome
-
Mücke J, Happle R, Theile H. MIDAS syndrome respectively MLS syndrome: a separate entity rather than a particular lyonization pattern of the gene causing Goltz syndrome. Am J Med Genet 1995 57 : 117 118.
-
(1995)
Am J Med Genet
, vol.57
, pp. 117-118
-
-
Mücke, J.1
Happle, R.2
Theile, H.3
-
16
-
-
0031048848
-
Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck
-
Paulger BR, Kraus EW, Pulitzer DR et al. Xp microdeletion syndrome characterized by pathognomonic linear skin defects on the head and neck. Pediatr Dermatol 1997 14 : 26 30.
-
(1997)
Pediatr Dermatol
, vol.14
, pp. 26-30
-
-
Paulger, B.R.1
Kraus, E.W.2
Pulitzer, D.R.3
-
17
-
-
0344614241
-
MIDAS syndrome in a 46,XX newborn with ambiguous genitalia and a cryptic, de novo X;Y translocation
-
Camacho JA, Goodman BK, Hamosh A et al. MIDAS syndrome in a 46,XX newborn with ambiguous genitalia and a cryptic, de novo X;Y translocation. Am J Hum Genet 1997 61 (suppl. A93.
-
(1997)
Am J Hum Genet
, vol.6193
-
-
Camacho, J.A.1
Goodman, B.K.2
Hamosh, A.3
-
18
-
-
0031689653
-
Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: Molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
-
Ogata T, Wakui K, Muroya K et al. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern. Hum Genet 1998 103 : 51 56.
-
(1998)
Hum Genet
, vol.103
, pp. 51-56
-
-
Ogata, T.1
Wakui, K.2
Muroya, K.3
-
19
-
-
0032962753
-
Another observation of microphthalmia in an XX male: Microphthalmia with linear skin defects syndrome without linear skin lesions
-
Kono T, Migita T, Koyama S et al. Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions. J Hum Genet 1999 44 : 63 68.
-
(1999)
J Hum Genet
, vol.44
, pp. 63-68
-
-
Kono, T.1
Migita, T.2
Koyama, S.3
-
20
-
-
0034989587
-
Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS)
-
Kayserili H, Cox TC, Cox LL et al. Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS). J Med Genet 2001 38 : 411 417.
-
(2001)
J Med Genet
, vol.38
, pp. 411-417
-
-
Kayserili, H.1
Cox, T.C.2
Cox, L.L.3
-
21
-
-
0035991592
-
Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: Use of endocardial mapping and radiofrequency catheter ablation
-
Paul T, Laohakunakorn P, Long B et al. Complete elimination of incessant polymorphic ventricular tachycardia in an infant with MIDAS syndrome: use of endocardial mapping and radiofrequency catheter ablation. J Cardiovasc Electrophysiol 2002 13 : 612 615.
-
(2002)
J Cardiovasc Electrophysiol
, vol.13
, pp. 612-615
-
-
Paul, T.1
Laohakunakorn, P.2
Long, B.3
-
22
-
-
0344961757
-
Microphthalmia with linear skin defects syndrome (MLS): A male with a mosaic paracentric inversion of Xp
-
Kutsche K, Werner W, Bartsch O et al. Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. Cytogenet Genome Res 2002 99 : 297 302.
-
(2002)
Cytogenet Genome Res
, vol.99
, pp. 297-302
-
-
Kutsche, K.1
Werner, W.2
Bartsch, O.3
-
23
-
-
0041320753
-
Twin brothers with MIDAS syndrome and XX karyotype
-
Anguiano A, Yang X, Felix JK et al. Twin brothers with MIDAS syndrome and XX karyotype. Am J Med Genet 2003 119A : 47 49.
-
(2003)
Am J Med Genet
, vol.119
, pp. 47-49
-
-
Anguiano, A.1
Yang, X.2
Felix, J.K.3
-
24
-
-
24344492701
-
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases
-
Morleo M, Pramparo T, Perone L et al. Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases. Am J Med Genet 2005 137A : 190 198.
-
(2005)
Am J Med Genet
, vol.137
, pp. 190-198
-
-
Morleo, M.1
Pramparo, T.2
Perone, L.3
-
25
-
-
34247144490
-
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH, and array comparative genomic hybridization
-
Cain CC, Saul D, Attanasio L et al. Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH, and array comparative genomic hybridization. Prenat Diagn 2007 27 : 373 379.
-
(2007)
Prenat Diagn
, vol.27
, pp. 373-379
-
-
Cain, C.C.1
Saul, D.2
Attanasio, L.3
-
26
-
-
33646524747
-
X-inactivation and human disease: X-linked dominant male-lethal disorders
-
Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Curr Opin Genet Dev 2006 16 : 254 259.
-
(2006)
Curr Opin Genet Dev
, vol.16
, pp. 254-259
-
-
Franco, B.1
Ballabio, A.2
-
27
-
-
33751098033
-
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome
-
Wimplinger I, Morleo M, Rosenberger G et al. Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet 2006 79 : 878 889.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 878-889
-
-
Wimplinger, I.1
Morleo, M.2
Rosenberger, G.3
-
28
-
-
0036791185
-
A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS
-
Fryssira H, Papathanassiou M, Barbounaki J et al. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. Clin Dysmorphol 2002 11 : 277 281.
-
(2002)
Clin Dysmorphol
, vol.11
, pp. 277-281
-
-
Fryssira, H.1
Papathanassiou, M.2
Barbounaki, J.3
|