-
2
-
-
0001113907
-
Oculoauriculovertebral dysplasia
-
Gorlin, R.J., Jue K.L., Jacobson U. and Goldschmidt E. (1963) Oculoauriculovertebral dysplasia. J. Pediatr., 63, 991-999.
-
(1963)
J. Pediatr.
, vol.63
, pp. 991-999
-
-
Gorlin, R.J.1
Jue, K.L.2
Jacobson, U.3
Goldschmidt, E.4
-
3
-
-
29544444827
-
Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification
-
Tasse, C., Böhringer, S., Fischer, S., Ludecke, H.-J., Albrecht, B., Horn, D., Janecke, A., Kling, R., König, R. and Lorenz, B. (2005) Oculo-auriculo-vertebral spectrum (OAVS): Clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur. J. Med. Genet., 48, 397-411.
-
(2005)
Eur. J. Med. Genet.
, vol.48
, pp. 397-411
-
-
Tasse, C.1
Böhringer, S.2
Fischer, S.3
Ludecke, H.-J.4
Albrecht, B.5
Horn, D.6
Janecke, A.7
Kling, R.8
König, R.9
Lorenz, B.10
-
4
-
-
0020689173
-
Genetic aspects of hemifacial microsomia
-
Burck, U. (1983) Genetic aspects of hemifacial microsomia. Hum. Genet., 64, 291-296.
-
(1983)
Hum. Genet.
, vol.64
, pp. 291-296
-
-
Burck, U.1
-
5
-
-
0031902312
-
A family with dominant oculoauriculovertebral spectrum
-
Stoll, C., Viville, B., Treisser, A. and Gasser, B. (1998) A family with dominant oculoauriculovertebral spectrum. Am. J. Med. Genet., 78, 345-349.
-
(1998)
Am. J. Med. Genet.
, vol.78
, pp. 345-349
-
-
Stoll, C.1
Viville, B.2
Treisser, A.3
Gasser, B.4
-
6
-
-
18244364173
-
Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome
-
Kelberman, D., Tyson, J., Chandler, D.C., McInerney, A.M., Slee, J., Albert, D., Aymat, A., Botma, M., Calvert, M., Goldblatt, J. et al. (2001) Hemifacial microsomia: Progress in understanding the genetic basis of a complex malformation syndrome. Hum. Genet., 109, 638-645.
-
(2001)
Hum. Genet.
, vol.109
, pp. 638-645
-
-
Kelberman, D.1
Tyson, J.2
Chandler, D.C.3
McInerney, A.M.4
Slee, J.5
Albert, D.6
Aymat, A.7
Botma, M.8
Calvert, M.9
Goldblatt, J.10
-
7
-
-
0027521087
-
Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall
-
Gaunt, S.J., Blum, M. and De Robertis, E.M. (1993) Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall. Development, 117, 769-778.
-
(1993)
Development
, vol.117
, pp. 769-778
-
-
Gaunt, S.J.1
Blum, M.2
De Robertis, E.M.3
-
8
-
-
0029082929
-
Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death
-
Yamada, G., Mansouri, A., Torres, M., Stuart, E.T., Blum, M., Schultz, M., De Robertis, E.M. and Gruss, P. (1995) Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death. Development, 121, 2917-2922.
-
(1995)
Development
, vol.121
, pp. 2917-2922
-
-
Yamada, G.1
Mansouri, A.2
Torres, M.3
Stuart, E.T.4
Blum, M.5
Schultz, M.6
De Robertis, E.M.7
Gruss, P.8
-
9
-
-
0029124998
-
Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development
-
Rivera-Perez, J.A., Mallo, M., Gendron-Maguire, M., Gridley, T. and Behringer, R.R. (1995) Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development, 121, 3005-3012.
-
(1995)
Development
, vol.121
, pp. 3005-3012
-
-
Rivera-Perez, J.A.1
Mallo, M.2
Gendron-Maguire, M.3
Gridley, T.4
Behringer, R.R.5
-
10
-
-
3042710545
-
Moz regulates Hox expression and pharyngeal segmental identity in zebrafish
-
Miller, C.T., Maves, L. and Kimmel, C.B. (2004) moz regulates Hox expression and pharyngeal segmental identity in zebrafish. Development, 131, 2443-2461.
-
(2004)
Development
, vol.131
, pp. 2443-2461
-
-
Miller, C.T.1
Maves, L.2
Kimmel, C.B.3
-
11
-
-
1842454975
-
Bapx1 regulates patterning in the middle ear: Altered regulatory role in the transition from the proximal jaw during vertebrate evolution
-
Tucker, A.S., Watson, R.P., Lettice, L.A., Yamada, G. and Hill, R.E. (2004) Bapx1 regulates patterning in the middle ear: Altered regulatory role in the transition from the proximal jaw during vertebrate evolution. Development, 131, 1235-1245.
-
(2004)
Development
, vol.131
, pp. 1235-1245
-
-
Tucker, A.S.1
Watson, R.P.2
Lettice, L.A.3
Yamada, G.4
Hill, R.E.5
-
12
-
-
0030730924
-
Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe
-
Tribioli, C. and Lufkin, T. (1997) Molecular cloning, chromosomal mapping and developmental expression of BAPX1, a novel human homeobox-containing gene homologous to Drosophila bagpipe. Gene, 203, 225-233.
-
(1997)
Gene
, vol.203
, pp. 225-233
-
-
Tribioli, C.1
Lufkin, T.2
-
13
-
-
0030697997
-
Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia
-
Yoshiura, K.I. and Murray, J.C. (1997) Sequence and chromosomal assignment of human BAPX1, a bagpipe-related gene, to 4p16.1: A candidate gene for skeletal dysplasia. Genomics, 45, 425-428.
-
(1997)
Genomics
, vol.45
, pp. 425-428
-
-
Yoshiura, K.I.1
Murray, J.C.2
-
14
-
-
0033917762
-
Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation
-
Akazawa, H., Komuro, I., Sugitani, Y., Yazaki, Y., Nagai, R. and Noda, T. (2000) Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation. Genes Cells, 5, 499-513.
-
(2000)
Genes Cells
, vol.5
, pp. 499-513
-
-
Akazawa, H.1
Komuro, I.2
Sugitani, Y.3
Yazaki, Y.4
Nagai, R.5
Noda, T.6
-
15
-
-
0034871175
-
The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton
-
Lettice, L., Hecksher-Sorensen, J. and Hill, R. (2001) The role of Bapx1 (Nkx3.2) in the development and evolution of the axial skeleton. J. Anat., 199, 181-187.
-
(2001)
J. Anat.
, vol.199
, pp. 181-187
-
-
Lettice, L.1
Hecksher-Sorensen, J.2
Hill, R.3
-
16
-
-
0031193948
-
Bapx1: An evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton
-
Tribioli, C., Frasch, M. and Lufkin, T. (1997) Bapx1: An evolutionary conserved homologue of the Drosophila bagpipe homeobox gene is expressed in splanchnic mesoderm and the embryonic skeleton. Mech. Dev., 65, 145-162.
-
(1997)
Mech. Dev.
, vol.65
, pp. 145-162
-
-
Tribioli, C.1
Frasch, M.2
Lufkin, T.3
-
17
-
-
0033578414
-
The mouse bagpipe gene controls development of axial skeleton, skull, and spleen
-
Lettice, L.A., Purdie, L.A., Carlson, G.J., Kilanowski, F., Dorin, J. and Hill, R.E. (1999) The mouse bagpipe gene controls development of axial skeleton, skull, and spleen. Proc. Natl Acad. Sci. USA, 96, 9695-9700.
-
(1999)
Proc. Natl Acad. Sci. USA
, vol.96
, pp. 9695-9700
-
-
Lettice, L.A.1
Purdie, L.A.2
Carlson, G.J.3
Kilanowski, F.4
Dorin, J.5
Hill, R.E.6
-
18
-
-
0033379122
-
The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen
-
Tribioli, C. and Lufkin, T. (1999) The murine Bapx1 homeobox gene plays a critical role in embryonic development of the axial skeleton and spleen. Development, 126, 5699-5711.
-
(1999)
Development
, vol.126
, pp. 5699-5711
-
-
Tribioli, C.1
Lufkin, T.2
-
19
-
-
14844353430
-
Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement
-
Josifova, D.J., Patton, M.A. and Marks, K. (2004) Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement. Clin. Dysmorphol., 13, 151-153.
-
(2004)
Clin. Dysmorphol.
, vol.13
, pp. 151-153
-
-
Josifova, D.J.1
Patton, M.A.2
Marks, K.3
-
20
-
-
0037438595
-
Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects
-
Derbent, M., Yilmaz, Z., Baltaci, V., Saygili, A., Varan, B. and Tokel, K. (2003) Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects. Am. J. Med. Genet., 116A, 129-135.
-
(2003)
Am. J. Med. Genet.
, vol.116 A
, pp. 129-135
-
-
Derbent, M.1
Yilmaz, Z.2
Baltaci, V.3
Saygili, A.4
Varan, B.5
Tokel, K.6
-
21
-
-
0034468140
-
Oculoauriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental findings or etiologic factor?
-
Stanojevic, M., Stipoljev, F., Koprcina, B. and Kurjak, A. (2000) Oculoauriculo-vertebral (Goldenhar) spectrum associated with pericentric inversion 9: Coincidental findings or etiologic factor? J. Craniofac. Genet. Dev. Biol., 20, 150-154.
-
(2000)
J. Craniofac. Genet. Dev. Biol.
, vol.20
, pp. 150-154
-
-
Stanojevic, M.1
Stipoljev, F.2
Koprcina, B.3
Kurjak, A.4
-
22
-
-
17544390638
-
Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8
-
Lüdecke, H.-J., Schmidt, O., Nardmann, J., von Holtum, D., Meinecke, P., Muenke, M. and Horsthemke, B. (1999) Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8. Hum. Genet., 105, 619-628.
-
(1999)
Hum. Genet.
, vol.105
, pp. 619-628
-
-
Lüdecke, H.-J.1
Schmidt, O.2
Nardmann, J.3
von Holtum, D.4
Meinecke, P.5
Muenke, M.6
Horsthemke, B.7
-
23
-
-
11144339384
-
Long-range control of gene expression: Emerging mechanisms and disruption in disease
-
Kleinjan, D.A. and van Heyningen, V. (2005) Long-range control of gene expression: Emerging mechanisms and disruption in disease. Am. J. Hum. Genet., 76, 8-32.
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 8-32
-
-
Kleinjan, D.A.1
van Heyningen, V.2
-
24
-
-
0036683426
-
Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesis
-
Zeng, L., Kempf, H., Murtaugh, L.C., Sato, M.E. and Lassar, A.B. (2002) Shh establishes an Nkx3.2/Sox9 autoregulatory loop that is maintained by BMP signals to induce somitic chondrogenesis. Genes. Dev., 16, 1990-2005.
-
(2002)
Genes. Dev.
, vol.16
, pp. 1990-2005
-
-
Zeng, L.1
Kempf, H.2
Murtaugh, L.C.3
Sato, M.E.4
Lassar, A.B.5
-
25
-
-
0037188510
-
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly
-
Lettice, L.A., Horikoshi, T., Heaney, S.J., van Baren, M.J., van der Linde, H.C., Breedveld, G.J., Joosse, M., Akarsu, N., Oostra, B.A., Endo, N. et al. (2002) Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc. Natl Acad. Sci. USA, 99, 7548-7553.
-
(2002)
Proc. Natl Acad. Sci. USA
, vol.99
, pp. 7548-7553
-
-
Lettice, L.A.1
Horikoshi, T.2
Heaney, S.J.3
van Baren, M.J.4
van der Linde, H.C.5
Breedveld, G.J.6
Joosse, M.7
Akarsu, N.8
Oostra, B.A.9
Endo, N.10
-
26
-
-
2342530409
-
Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal
-
Pop, R., Conz, C., Lindenberg, K.S., Blesson, S., Schmalenberger, B., Briault, S., Pfeifer, D. and Scherer, G. (2004) Screening of the 1 Mb SOX9 5′ control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal. J. Med. Genet., 41, e47.
-
(2004)
J. Med. Genet.
, vol.41
-
-
Pop, R.1
Conz, C.2
Lindenberg, K.S.3
Blesson, S.4
Schmalenberger, B.5
Briault, S.6
Pfeifer, D.7
Scherer, G.8
-
27
-
-
24544461961
-
Autosomal dominant transmission of a Goldenhar-like syndrome: Description of a family and report of a sporadic case with a de novo 4p16;8q24.11 translocation
-
Graham, J.M., Jr, Hixon, H., Bacino, C.A., Daack-Hirsch, S., Stadler, S. and Murray, J.C. (1994) Autosomal dominant transmission of a Goldenhar-like syndrome: Description of a family and report of a sporadic case with a de novo 4p16;8q24.11 translocation. Am. J. Hum. Genet., 55 (suppl), A107.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, Issue.SUPPL.
-
-
Graham Jr., J.M.1
Hixon, H.2
Bacino, C.A.3
Daack-Hirsch, S.4
Stadler, S.5
Murray, J.C.6
-
28
-
-
0029090221
-
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
-
Ahn, J., Ludecke, H.-J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B. and Wells, D.E. (1995) Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat. Genet., 11, 137-143.
-
(1995)
Nat. Genet.
, vol.11
, pp. 137-143
-
-
Ahn, J.1
Ludecke, H.-J.2
Lindow, S.3
Horton, W.A.4
Lee, B.5
Wagner, M.J.6
Horsthemke, B.7
Wells, D.E.8
-
29
-
-
0029992406
-
Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini
-
Brauers, A., Schurmann, A., Massmann, S., Muhl-Zurbes, P., Becker, W., Kainulainen, H., Lie, C. and Joost, H.G. (1996) Alternative mRNA splicing of the novel GTPase Rab28 generates isoforms with different C-termini. Eur. J. Biochem., 237, 833-840.
-
(1996)
Eur. J. Biochem.
, vol.237
, pp. 833-840
-
-
Brauers, A.1
Schurmann, A.2
Massmann, S.3
Muhl-Zurbes, P.4
Becker, W.5
Kainulainen, H.6
Lie, C.7
Joost, H.G.8
-
30
-
-
1642403669
-
Meox homeodomain proteins are required for Bapx1 expression in the sclerotome and activate its transcription by direct binding to its promoter
-
Rodrigo, I., Bovolenta, P., Mankoo, B.S. and Imai, K. (2004) Meox homeodomain proteins are required for Bapx1 expression in the sclerotome and activate its transcription by direct binding to its promoter. Mol. Cell. Biol., 24, 2757-2766.
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 2757-2766
-
-
Rodrigo, I.1
Bovolenta, P.2
Mankoo, B.S.3
Imai, K.4
-
31
-
-
10744224159
-
A survey of genetic and epigenetic variation affecting human gene expression
-
Pastinen, T., Sladek, R., Gurd, S., Sammak, A., Ge, B., Lepage, P., Lavergne, K., Villeneuve, A., Gaudin, T., Brandstrom, H. et al. (2004) A survey of genetic and epigenetic variation affecting human gene expression. Physiol. Genomics, 16, 184-193.
-
(2004)
Physiol. Genomics
, vol.16
, pp. 184-193
-
-
Pastinen, T.1
Sladek, R.2
Gurd, S.3
Sammak, A.4
Ge, B.5
Lepage, P.6
Lavergne, K.7
Villeneuve, A.8
Gaudin, T.9
Brandstrom, H.10
-
32
-
-
0015593387
-
The pathogenesis of the first and second branchial arch syndrome
-
Poswillo, D. (1973) The pathogenesis of the first and second branchial arch syndrome. Oral Surg. Oral Med. Oral Pathol., 35, 302-328.
-
(1973)
Oral Surg. Oral Med. Oral Pathol.
, vol.35
, pp. 302-328
-
-
Poswillo, D.1
-
33
-
-
0023627005
-
Goldenhar complex in discordant monozygotic twins: A case report and review of the literature
-
Boles, D.J., Bodurtha, J. and Nance, W.E. (1987) Goldenhar complex in discordant monozygotic twins: A case report and review of the literature. Am. J. Med. Genet., 28, 103-109.
-
(1987)
Am. J. Med. Genet.
, vol.28
, pp. 103-109
-
-
Boles, D.J.1
Bodurtha, J.2
Nance, W.E.3
-
34
-
-
0020027335
-
Goldenhar's syndrome: Discordance in monozygotic twins and unusual anomalies
-
Ebbesen, F. and Petersen, W. (1982) Goldenhar's syndrome: Discordance in monozygotic twins and unusual anomalies. Acta Paediatr. Scand., 71, 685-687.
-
(1982)
Acta Paediatr. Scand.
, vol.71
, pp. 685-687
-
-
Ebbesen, F.1
Petersen, W.2
-
35
-
-
0001578146
-
Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide épibulbaire - Appendices auriculaires - fistula auris congenita et ses relations avec la dysostose mandibulo-faciale
-
Goldenhar, M. (1952) Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide épibulbaire - appendices auriculaires - fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J. Génét. Hum., 1, 243-282.
-
(1952)
J. Génét. Hum.
, vol.1
, pp. 243-282
-
-
Goldenhar, M.1
-
36
-
-
0021940316
-
Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning
-
Yovich, J.L., Stanger, J.D., Grauaug, A.A., Lunay, G.G., Hollingsworth, P. and Mulcahy, M.T. (1985) Fetal abnormality (Goldenhar syndrome) occurring in one of triplet infants derived from in vitro fertilization with possible monozygotic twinning. J. In Vitro Fert. Embryo Transf., 2, 27-32.
-
(1985)
J. In Vitro Fert. Embryo Transf.
, vol.2
, pp. 27-32
-
-
Yovich, J.L.1
Stanger, J.D.2
Grauaug, A.A.3
Lunay, G.G.4
Hollingsworth, P.5
Mulcahy, M.T.6
-
37
-
-
7444235907
-
Cis-acting regulatory variation in the human genome
-
Pastinen, T. and Hudson, T.J. (2004) Cis-acting regulatory variation in the human genome. Science, 306, 647-650.
-
(2004)
Science
, vol.306
, pp. 647-650
-
-
Pastinen, T.1
Hudson, T.J.2
-
38
-
-
0037119584
-
Allelic variation in human gene expression
-
Yan, H., Yuan, W., Velculescu, V.E., Vogelstein, B. and Kinzler, K.W. (2002) Allelic variation in human gene expression. Science, 297, 1143.
-
(2002)
Science
, vol.297
, pp. 1143
-
-
Yan, H.1
Yuan, W.2
Velculescu, V.E.3
Vogelstein, B.4
Kinzler, K.W.5
-
39
-
-
0012789869
-
Allelic variation in gene expression is common in the human genome
-
Lo, H.S., Wang, Z., Hu, Y., Yang, H.H., Gere, S., Buetow, K.H. and Lee, M.P. (2003) Allelic variation in gene expression is common in the human genome. Genome Res., 13, 1855-1862.
-
(2003)
Genome Res.
, vol.13
, pp. 1855-1862
-
-
Lo, H.S.1
Wang, Z.2
Hu, Y.3
Yang, H.H.4
Gere, S.5
Buetow, K.H.6
Lee, M.P.7
-
40
-
-
0036334007
-
Small changes in expression affect predisposition to tumorigenesis
-
Yan, H., Dobbie, Z., Gruber, S.B., Markowitz, S., Romans, K., Giardiello, P.M., Kinzler, K.W. and Vogelstein, B. (2002) Small changes in expression affect predisposition to tumorigenesis. Nat. Genet., 30, 25-26.
-
(2002)
Nat. Genet.
, vol.30
, pp. 25-26
-
-
Yan, H.1
Dobbie, Z.2
Gruber, S.B.3
Markowitz, S.4
Romans, K.5
Giardiello, P.M.6
Kinzler, K.W.7
Vogelstein, B.8
-
41
-
-
0033949022
-
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion
-
Wieczorek, D., Krause, M., Majewski, F., Albrecht, B., Horn, D., Riess, O. and Gillessen-Kaesbach, G. (2000) Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: Analysis of 13 patients with a de novo deletion. Eur. J. Hum. Genet., 8, 519-526.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 519-526
-
-
Wieczorek, D.1
Krause, M.2
Majewski, F.3
Albrecht, B.4
Horn, D.5
Riess, O.6
Gillessen-Kaesbach, G.7
-
42
-
-
0037383450
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Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint
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Miller, C.T., Yelon, D., Stainier, D.Y. and Kimmel, C.B. (2003) Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw joint. Development, 130, 1353-1365.
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(2003)
Development
, vol.130
, pp. 1353-1365
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Miller, C.T.1
Yelon, D.2
Stainier, D.Y.3
Kimmel, C.B.4
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