-
1
-
-
0029090221
-
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
-
Ahn J, Ludecke HJ, Lindow S, Norton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995; 11: 137-143.
-
(1995)
Nat Genet
, vol.11
, pp. 137-143
-
-
Ahn, J.1
Ludecke, H.J.2
Lindow, S.3
Norton, W.A.4
Lee, B.5
Wagner, M.J.6
Horsthemke, B.7
Wells, D.E.8
-
2
-
-
0037103210
-
Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype
-
Akhavan S, De Cristofaro R, Peyvandi F, Lavoretano S, Landolfi R, Mannucci PM. Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype. Blood. 2002; 100: 1347-1353.
-
(2002)
Blood
, vol.100
, pp. 1347-1353
-
-
Akhavan, S.1
De Cristofaro, R.2
Peyvandi, F.3
Lavoretano, S.4
Landolfi, R.5
Mannucci, P.M.6
-
3
-
-
19144373472
-
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11
-
Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11. Am J Hum Genet. 1996; 58: 734-742.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 734-742
-
-
Bartsch, O.1
Wuyts, W.2
Van Hul, W.3
Hecht, J.T.4
Meinecke, P.5
Hogue, D.6
Werner, W.7
Zabel, B.8
Hinkel, G.K.9
Powell, C.M.10
Shaffer, L.G.11
Willems, P.J.12
-
4
-
-
0028886136
-
-
Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, fiszman M, Komajda M, Schwartz K. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995; 11: 438-440.
-
Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, fiszman M, Komajda M, Schwartz K. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet. 1995; 11: 438-440.
-
-
-
-
5
-
-
17144430529
-
Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
-
Bremond-Gignac D, Crolla JA, Copin H, Guichet A, Bonneau D, Taine L, Lacombe D, Baumann C, Benzacken B, Verloes A. Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion. Eur J Hum Genet. 2005; 13: 409-413.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 409-413
-
-
Bremond-Gignac, D.1
Crolla, J.A.2
Copin, H.3
Guichet, A.4
Bonneau, D.5
Taine, L.6
Lacombe, D.7
Baumann, C.8
Benzacken, B.9
Verloes, A.10
-
6
-
-
14044269481
-
Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
-
Chuang L, Wakui K, Sue WC, Su MH, Shaffer LG, Kuo PL. Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome. Am J Med Genet A. 2005; 133: 180-183.
-
(2005)
Am J Med Genet A
, vol.133
, pp. 180-183
-
-
Chuang, L.1
Wakui, K.2
Sue, W.C.3
Su, M.H.4
Shaffer, L.G.5
Kuo, P.L.6
-
8
-
-
16344396463
-
A human gene family of neurite outgrowth-promoting proteins: Heparin-binding neurite outgrowth promoting factor maps to 11p11-11p13
-
Eddy RL, Kretschmer PJ, Fairhurst JL, Shows TB, Bohlen P, O'Hara B, Kovesdi I. A human gene family of neurite outgrowth-promoting proteins: heparin-binding neurite outgrowth promoting factor maps to 11p11-11p13. Cytogenet Cell Genet. 1991; 58: 1958.
-
(1991)
Cytogenet Cell Genet
, vol.58
, pp. 1958
-
-
Eddy, R.L.1
Kretschmer, P.J.2
Fairhurst, J.L.3
Shows, T.B.4
Bohlen, P.5
O'Hara, B.6
Kovesdi, I.7
-
9
-
-
0017762415
-
Gene dose effect: Intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p
-
Francke U, George DL, Brown MG, Riccardi VM. Gene dose effect: intraband mapping of the LDH A locus using cells from four individuals with different interstitial deletions of 11p. Cytogenet Cell Genet. 1977; 19: 197-207.
-
(1977)
Cytogenet Cell Genet
, vol.19
, pp. 197-207
-
-
Francke, U.1
George, D.L.2
Brown, M.G.3
Riccardi, V.M.4
-
11
-
-
0026758991
-
Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype
-
Frydman M, Etzioni A, Eidlitz-Markus T, Avidor I, Varsano I, Shechter Y, Orlin JB, Gershoni-Baruch R. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet. 1992; 44: 297-302.
-
(1992)
Am J Med Genet
, vol.44
, pp. 297-302
-
-
Frydman, M.1
Etzioni, A.2
Eidlitz-Markus, T.3
Avidor, I.4
Varsano, I.5
Shechter, Y.6
Orlin, J.B.7
Gershoni-Baruch, R.8
-
12
-
-
0002537849
-
The Catlin mark: The inheritance of an unusual opening in the parietal bones
-
Goldsmith WM. The Catlin mark: the inheritance of an unusual opening in the parietal bones. J Heredity. 1922; 13: 69-71.
-
(1922)
J Heredity
, vol.13
, pp. 69-71
-
-
WM, G.1
-
13
-
-
0021638086
-
Two cases of 11p13 interstitial deletion and unusual clinical features
-
Gustavson KH, Anneren G, Wranne L. Two cases of 11p13 interstitial deletion and unusual clinical features. Clin Genet. 1984; 26: 247-249.
-
(1984)
Clin Genet
, vol.26
, pp. 247-249
-
-
Gustavson, K.H.1
Anneren, G.2
Wranne, L.3
-
14
-
-
0035177571
-
Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4
-
Hall CR, Wu Y, Shaffer LQ Hecht JT. Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4. Clin Genet. 2001; 60: 356-359.
-
(2001)
Clin Genet
, vol.60
, pp. 356-359
-
-
Hall, C.R.1
Wu, Y.2
Shaffer, L.Q.3
Hecht, J.T.4
-
15
-
-
0032471611
-
Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D
-
Honsho M, Tamura S, Shimozawa N, Suzuki Y, Kondo N, Fujiki Y. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. Am J Hum Genet. 1998; 63: 1622-1630.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1622-1630
-
-
Honsho, M.1
Tamura, S.2
Shimozawa, N.3
Suzuki, Y.4
Kondo, N.5
Fujiki, Y.6
-
16
-
-
33846425891
-
Eine Gruppe familiärer Mikro- und Mikrencephalie
-
Jakob H. Eine Gruppe familiärer Mikro- und Mikrencephalie. Z Neurol Psychiatr. 1936; 156: 633-645.
-
(1936)
Z Neurol Psychiatr
, vol.156
, pp. 633-645
-
-
Jakob, H.1
-
17
-
-
0028351625
-
A gene for hereditary multiple exostoses maps to chromosome 19p
-
Le Merrer M, Legeai-Mallet L, Jeannin PM, Horsthemke B, Schinzel A, Plauchu H, Toutain A, Achard F, Munnich A, Maroteaux P. A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet. 1994; 35: 717-722.
-
(1994)
Hum Mol Genet
, vol.35
, pp. 717-722
-
-
Le Merrer, M.1
Legeai-Mallet, L.2
Jeannin, P.M.3
Horsthemke, B.4
Schinzel, A.5
Plauchu, H.6
Toutain, A.7
Achard, F.8
Munnich, A.9
Maroteaux, P.10
-
18
-
-
0025341229
-
An unusual type of acrocephalosyndactyly with biparietal parietooccipital "encephalocele" , micropenis and severe mental retardation
-
Lorenz P, Rupprecht E, Tellkamp H. An unusual type of acrocephalosyndactyly with biparietal parietooccipital "encephalocele" , micropenis and severe mental retardation. Am J Med Genet. 1990; 36: 265-268.
-
(1990)
Am J Med Genet
, vol.36
, pp. 265-268
-
-
Lorenz, P.1
Rupprecht, E.2
Tellkamp, H.3
-
19
-
-
12944320332
-
Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse
-
Mannan AU, Roussa E, Kraus C, Rickmann M, Maenner J, Nayernia K, Krieglstein K, Reis A, Engel W. Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse. Neurogenetics. 2004; 5: 229-238.
-
(2004)
Neurogenetics
, vol.5
, pp. 229-238
-
-
Mannan, A.U.1
Roussa, E.2
Kraus, C.3
Rickmann, M.4
Maenner, J.5
Nayernia, K.6
Krieglstein, K.7
Reis, A.8
Engel, W.9
-
20
-
-
0035158663
-
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects
-
Mavrogiannis LA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet. 2001; 27: 17-18.
-
(2001)
Nat Genet
, vol.27
, pp. 17-18
-
-
Mavrogiannis, L.A.1
Antonopoulou, I.2
Baxova, A.3
Kutilek, S.4
Kim, C.A.5
Sugayama, S.M.6
Salamanca, A.7
Wall, S.A.8
Morriss-Kay, G.M.9
Wilkie, A.O.10
-
21
-
-
0029087464
-
WAGR syndrome and multiple exostoses in a patient with del(11) (p11.2p14.2)
-
McGaughran JM, Ward HB, Evans DG. WAGR syndrome and multiple exostoses in a patient with del(11) (p11.2p14.2). J Med Genet. 1995; 32: 823-824.
-
(1995)
J Med Genet
, vol.32
, pp. 823-824
-
-
McGaughran, J.M.1
Ward, H.B.2
Evans, D.G.3
-
22
-
-
0033556422
-
-
Mooser V, Maillard A, Bonny C, Steinmann M, Shaw P, Yarnall DP, Burns DK, Schorderet DF, Nicod P, Waeber G. Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/C-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene. Genomics. 1999; 55: 202-208.
-
Mooser V, Maillard A, Bonny C, Steinmann M, Shaw P, Yarnall DP, Burns DK, Schorderet DF, Nicod P, Waeber G. Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/C-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene. Genomics. 1999; 55: 202-208.
-
-
-
-
23
-
-
0014933035
-
Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder
-
Nadler HL, Egan TJ. Deficiency of lysosomal acid phosphatase. A new familial metabolic disorder. N Engl J Med. 1970; 282: 302-307.
-
(1970)
N Engl J Med
, vol.282
, pp. 302-307
-
-
Nadler, H.L.1
Egan, T.J.2
-
24
-
-
0032580520
-
Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
-
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE, Thierfelder L, Jarcho JA, Anastasakis A, Toutouzas P, Elstein E, Liew CC, Liew J, Mably J, Rakowski H, Wigle ED, Zhao M, Salerni R, Bjornsdottir H. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998; 338: 1248-1257.
-
(1998)
N Engl J Med
, vol.338
, pp. 1248-1257
-
-
Niimura, H.1
Bachinski, L.L.2
Sangwatanaroj, S.3
Watkins, H.4
Chudley, A.E.5
McKenna, W.6
Kristinsson, A.7
Roberts, R.8
Sole, M.9
Maron, B.J.10
Seidman, J.G.11
Seidman, C.E.12
Thierfelder, L.13
Jarcho, J.A.14
Anastasakis, A.15
Toutouzas, P.16
Elstein, E.17
Liew, C.C.18
Liew, J.19
Mably, J.20
Rakowski, H.21
Wigle, E.D.22
Zhao, M.23
Salerni, R.24
Bjornsdottir, H.25
more..
-
25
-
-
0029878404
-
Interstitial deletion of 11 (p11.2p12): A newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)
-
Potocki L, Shaffer LG. Interstitial deletion of 11 (p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet. 1996; 62: 319-325.
-
(1996)
Am J Med Genet
, vol.62
, pp. 319-325
-
-
Potocki, L.1
Shaffer, L.G.2
-
26
-
-
0031875540
-
Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly
-
Qu S, Tucker SC, Ehrlich JS, Levorse JM, Flaherty LA, Wisdom R, Vogt TF. Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. Development. 1998; 125: 2711-2721.
-
(1998)
Development
, vol.125
, pp. 2711-2721
-
-
Qu, S.1
Tucker, S.C.2
Ehrlich, J.S.3
Levorse, J.M.4
Flaherty, L.A.5
Wisdom, R.6
Vogt, T.F.7
-
27
-
-
0030792031
-
Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system
-
Saftig P, Hartmann D, Lullmann-Rauch R, Wolff J, Evers M, Koster A, Hetman M, von Figura K, Peters C. Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system. J Biol Chem. 1997; 272: 18628-18635.
-
(1997)
J Biol Chem
, vol.272
, pp. 18628-18635
-
-
Saftig, P.1
Hartmann, D.2
Lullmann-Rauch, R.3
Wolff, J.4
Evers, M.5
Koster, A.6
Hetman, M.7
von Figura, K.8
Peters, C.9
-
28
-
-
0037645897
-
Management of strabismus in nanophthalmic patients: A long-term follow-up report
-
Sener EC, Mocan MC, Sarac OI, Gedik S, Sanac AS. Management of strabismus in nanophthalmic patients: a long-term follow-up report. Ophthalmology. 2003; 110: 1230-1236.
-
(2003)
Ophthalmology
, vol.110
, pp. 1230-1236
-
-
Sener, E.C.1
Mocan, M.C.2
Sarac, O.I.3
Gedik, S.4
Sanac, A.S.5
-
29
-
-
0027394225
-
Familial interstitial deletion 11 (p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
-
Shaffer LG, Hecht JT, Ledbetter DH, Greenberg F. Familial interstitial deletion 11 (p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation. Am J Med Genet. 1993; 45: 581-583.
-
(1993)
Am J Med Genet
, vol.45
, pp. 581-583
-
-
Shaffer, L.G.1
Hecht, J.T.2
Ledbetter, D.H.3
Greenberg, F.4
-
30
-
-
0029764629
-
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
-
Stickens D, Clines G, Burbee D, Ramos P, Thomas S, Hague D, Hecht JT, Lovett M, Evans GA. The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. Nat Genet. 1996; 14: 25-32.
-
(1996)
Nat Genet
, vol.14
, pp. 25-32
-
-
Stickens, D.1
Clines, G.2
Burbee, D.3
Ramos, P.4
Thomas, S.5
Hague, D.6
Hecht, J.T.7
Lovett, M.8
Evans, G.A.9
-
31
-
-
0025120739
-
Role for the Wilms tumor gene in genital development?
-
van Heyningen V, Bickmore WA, Seawright A, Fletcher JM, Maule J, Fekete G, Gessler M, Bruns GAP, Huerre-Jeanpierre C, Junien C, Williams BRG, Hastie ND. Role for the Wilms tumor gene in genital development? Proc Nat Acad Sci. 1990; 87: 5383-5386.
-
(1990)
Proc Nat Acad Sci
, vol.87
, pp. 5383-5386
-
-
van Heyningen, V.1
Bickmore, W.A.2
Seawright, A.3
Fletcher, J.M.4
Maule, J.5
Fekete, G.6
Gessler, M.7
Bruns, G.A.P.8
Huerre-Jeanpierre, C.9
Junien, C.10
Williams, B.R.G.11
Hastie, N.D.12
-
32
-
-
0034104298
-
The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes
-
Waeber G, Delplanque J, Bonny C, Mooser V, Steinmann M, Widmann C, Maillard A, Miklossy J, Dina C, Hani EH, Vionnet N, Nicod P, Boutin P, Froguel P. The gene MAPK8IP1, encoding islet-brain-1, is a candidate for type 2 diabetes. Nat Genet. 2000; 24: 291-295.
-
(2000)
Nat Genet
, vol.24
, pp. 291-295
-
-
Waeber, G.1
Delplanque, J.2
Bonny, C.3
Mooser, V.4
Steinmann, M.5
Widmann, C.6
Maillard, A.7
Miklossy, J.8
Dina, C.9
Hani, E.H.10
Vionnet, N.11
Nicod, P.12
Boutin, P.13
Froguel, P.14
-
33
-
-
21044454700
-
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
-
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG. Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome. Eur J Hum Genet. 2005; 13: 528-540.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 528-540
-
-
Wakui, K.1
Gregato, G.2
Ballif, B.C.3
Glotzbach, C.D.4
Bailey, K.A.5
Kuo, P.L.6
Sue, W.C.7
Sheffield, L.J.8
Irons, M.9
Gomez, E.G.10
Hecht, J.T.11
Potocki, L.12
Shaffer, L.G.13
-
34
-
-
0028844204
-
Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
-
Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet. 1995; 11: 434-437.
-
(1995)
Nat Genet
, vol.11
, pp. 434-437
-
-
Watkins, H.1
Conner, D.2
Thierfelder, L.3
Jarcho, J.A.4
MacRae, C.5
McKenna, W.J.6
Maron, B.J.7
Seidman, J.G.8
Seidman, C.E.9
-
35
-
-
0034074417
-
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
-
Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification. Nat Genet. 2000; 24: 387-390.
-
(2000)
Nat Genet
, vol.24
, pp. 387-390
-
-
Wilkie, A.O.1
Tang, Z.2
Elanko, N.3
Walsh, S.4
Twigg, S.R.5
Hurst, J.A.6
Wall, S.A.7
Chrzanowska, K.H.8
Maxson Jr, R.E.9
-
36
-
-
0033759656
-
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
-
Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet. 2000; 67: 1327-1332.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1327-1332
-
-
Wu, Y.Q.1
Badano, J.L.2
McCaskill, C.3
Vogel, H.4
Potocki, L.5
Shaffer, L.G.6
-
37
-
-
0032787808
-
Molecular and clinical examination of an Italian DEFECT11 family
-
Wuyts W, Di Gennaro G, Bianco F, Wauters J, Morocutti C, Pierelli F, Bossuyt P, Van Hul W, Casali C. Molecular and clinical examination of an Italian DEFECT11 family. Eur J Hum Genet. 1999; 7: 579-584.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 579-584
-
-
Wuyts, W.1
Di Gennaro, G.2
Bianco, F.3
Wauters, J.4
Morocutti, C.5
Pierelli, F.6
Bossuyt, P.7
Van Hul, W.8
Casali, C.9
-
38
-
-
0034530307
-
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
-
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W. The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet. 2000; 37: 916-920.
-
(2000)
J Med Genet
, vol.37
, pp. 916-920
-
-
Wuyts, W.1
Cleiren, E.2
Homfray, T.3
Rasore-Quartino, A.4
Vanhoenacker, F.5
Van Hul, W.6
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39
-
-
0034192384
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Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna
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Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet. 2000; 9: 1251-1255.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1251-1255
-
-
Wuyts, W.1
Reardon, W.2
Preis, S.3
Homfray, T.4
Rasore-Quartino, A.5
Christians, H.6
Willems, P.J.7
Van Hul, W.8
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40
-
-
10144253124
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Positional cloning of a gene involved in hereditary multiple exostoses
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Wuyts W, Van Hul W, Wauters J, Nemtsova M, Reyniers E, Van Hul EV, De Boulle K, de Vries BB, Hendrickx J, Herrygers I, Bossuyt P, Balemans W, Fransen E, Vits L, Coucke P, Nowak NJ, Shows TB, Mallet L, van den Ouweland AM, McGaughran J, Halley DJ, Willems PJ. Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet. 1996; 5: 1547-1557.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1547-1557
-
-
Wuyts, W.1
Van Hul, W.2
Wauters, J.3
Nemtsova, M.4
Reyniers, E.5
Van Hul, E.V.6
De Boulle, K.7
de Vries, B.B.8
Hendrickx, J.9
Herrygers, I.10
Bossuyt, P.11
Balemans, W.12
Fransen, E.13
Vits, L.14
Coucke, P.15
Nowak, N.J.16
Shows, T.B.17
Mallet, L.18
van den Ouweland, A.M.19
McGaughran, J.20
Halley, D.J.21
Willems, P.J.22
more..
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41
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2442711482
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Proximal 11p deletion syndrome (PSS): Additional evaluation of the clinical and molecular aspects
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Wuyts W, Waeber G, Meinecke P, Schuler H, Goecke TO, Van Hul W, Bartsch O. Proximal 11p deletion syndrome (PSS): additional evaluation of the clinical and molecular aspects. Eur J Hum Genet. 2004; 12: 400-406.
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 400-406
-
-
Wuyts, W.1
Waeber, G.2
Meinecke, P.3
Schuler, H.4
Goecke, T.O.5
Van Hul, W.6
Bartsch, O.7
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