-
1
-
-
0030035153
-
Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families
-
Akarsu NA, Stoilov I, Yilmaze E, Sayli BS, Sarfarazi M: Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum molec Genet 5:945-952 (1996).
-
(1996)
Hum Molec Genet
, vol.5
, pp. 945-952
-
-
Akarsu, N.A.1
Stoilov, I.2
Yilmaze, E.3
Sayli, B.S.4
Sarfarazi, M.5
-
2
-
-
0025368589
-
Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents
-
Albertsen HM, Abderrahim H, Cann HM, Dausset JL, L Paslier D, Cohen D: Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc natl Acad Sci, USA 87:4256-4260 (1990).
-
(1990)
Proc Natl Acad Sci, USA
, vol.87
, pp. 4256-4260
-
-
Albertsen, H.M.1
Abderrahim, H.2
Cann, H.M.3
Dausset, J.L.4
Lrawat Paslier, D.5
Cohen, D.6
-
3
-
-
0031030297
-
Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family
-
Bähring S, Nagai T, Toka HR, Nitz I, Toka O, Aydin A, Muhl A, Wienker TF, Schuster H, Luft FC: Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family. Am J hum Genet 60:732-735 (1997).
-
(1997)
Am J Hum Genet
, vol.60
, pp. 732-735
-
-
Bähring, S.1
Nagai, T.2
Toka, H.R.3
Nitz, I.4
Toka, O.5
Aydin, A.6
Muhl, A.7
Wienker, T.F.8
Schuster, H.9
Luft, F.C.10
-
4
-
-
0014186092
-
Totale Syndactylie und totale radioulnare Synostose bei zwei Brudern
-
Cenani A, Lenz W: Totale Syndactylie und totale radioulnare Synostose bei zwei Brudern. Z Kinderheilk 101:181-190 (1967).
-
(1967)
Z Kinderheilk
, vol.101
, pp. 181-190
-
-
Cenani, A.1
Lenz, W.2
-
5
-
-
0026738541
-
Continuum of overlapping clones spanning the entire human chromosome 21q
-
Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, LeGall I, Soularue P, Grinas L, Bougueleret L, Bellanné-Chantelot C, Lacroix B, Barillot E, Gesnouin P, Pook S, Vaysseix G, Frelat G, Schmitz A, Sambucy JL, Bosch A, Estivill X, Weissenbach J, Vignal A, Riethman H, Cox D, Patterson D, Gardiner K, Hattori M, Sakaki Y, Ichikawa H, Ohki M, Paslier DL, Heilig R, Antonarakis S, Cohen D: Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380-387 (1992).
-
(1992)
Nature
, vol.359
, pp. 380-387
-
-
Chumakov, I.1
Rigault, P.2
Guillou, S.3
Ougen, P.4
Billaut, A.5
Guasconi, G.6
Gervy, P.7
LeGall, I.8
Soularue, P.9
Grinas, L.10
Bougueleret, L.11
Bellanné-Chantelot, C.12
Lacroix, B.13
Barillot, E.14
Gesnouin, P.15
Pook, S.16
Vaysseix, G.17
Frelat, G.18
Schmitz, A.19
Sambucy, J.L.20
Bosch, A.21
Estivill, X.22
Weissenbach, J.23
Vignal, A.24
Riethman, H.25
Cox, D.26
Patterson, D.27
Gardiner, K.28
Hattori, M.29
Sakaki, Y.30
Ichikawa, H.31
Ohki, M.32
Paslier, D.L.33
Heilig, R.34
Antonarakis, S.35
Cohen, D.36
more..
-
6
-
-
0029901276
-
Cenani-Lenz syndrome in father and daughter
-
De Smet L, Debeer P, Fryns JP: Cenani-Lenz syndrome in father and daughter. Genet Counsel 2:153-157 (1996).
-
(1996)
Genet Counsel
, vol.2
, pp. 153-157
-
-
De Smet, L.1
Debeer, P.2
Fryns, J.P.3
-
7
-
-
0026660287
-
Cenani-Lenz type of syndactyly: A complex type of syndactyly associated with multiple synostoses
-
De Smet L, Winnepenninckx B, Fryns JP, Fabry G: Cenani-Lenz type of syndactyly: a complex type of syndactyly associated with multiple synostoses. Genet Counsel 3:145-147 (1992).
-
(1992)
Genet Counsel
, vol.3
, pp. 145-147
-
-
De Smet, L.1
Winnepenninckx, B.2
Fryns, J.P.3
Fabry, G.4
-
8
-
-
0031851734
-
Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3′/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members
-
in press
-
Debeer P, Schoenmakers EFPM, De Smet L, Van De Ven WJM, Fryns JP: Co-segregation of an apparently balanced reciprocal t(12;22)(p11.2;q13.3) with a complex type of 3/3′/4 synpolydactyly associated with metacarpal, metatarsal and tarsal synostoses in three family members. Clin Dysmorph (1998, in press).
-
(1998)
Clin Dysmorph
-
-
Debeer, P.1
Schoenmakers, E.F.P.M.2
De Smet, L.3
Van De Ven, W.J.M.4
Fryns, J.P.5
-
9
-
-
0018644417
-
Oligodactyly and multiple synostoses of the extremities: Two cases in sibs
-
Dodinval P: Oligodactyly and multiple synostoses of the extremities: two cases in sibs. Hum Genet 48:183-189 (1979).
-
(1979)
Hum Genet
, vol.48
, pp. 183-189
-
-
Dodinval, P.1
-
10
-
-
0017214445
-
Totale Syndactylie mit mesomeler Armverkürzung, radioulnare und metacarpalen Synostosen und Disorganisation der Phalangen (Cenani-Lenz)
-
Drohm D, Lenz W, Yang T: Totale Syndactylie mit mesomeler Armverkürzung, radioulnare und metacarpalen Synostosen und Disorganisation der Phalangen (Cenani-Lenz). Klin Paediat 188:359-365 (1976).
-
(1976)
Klin Paediat
, vol.188
, pp. 359-365
-
-
Drohm, D.1
Lenz, W.2
Yang, T.3
-
11
-
-
85081422838
-
Oral presentation
-
Heidelberg, Germany, 22-24 March
-
Dunham I: Oral presentation. Human Gene Mapping '96, Heidelberg, Germany, 22-24 March (1996).
-
(1996)
Human Gene Mapping '96
-
-
Dunham, I.1
-
12
-
-
12644284524
-
Synpolydactyly phenotypes correlate with the size of expansions in HOXD13 polyalanine tract
-
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ: Synpolydactyly phenotypes correlate with the size of expansions in HOXD13 polyalanine tract. Proc natl Acad Sci, USA 94:7458-7463 (1997).
-
(1997)
Proc Natl Acad Sci, USA
, vol.94
, pp. 7458-7463
-
-
Goodman, F.R.1
Mundlos, S.2
Muragaki, Y.3
Donnai, D.4
Giovannucci-Uzielli, M.L.5
Lapi, E.6
Majewski, F.7
McGaughran, J.8
McKeown, C.9
Reardon, W.10
Upton, J.11
Winter, R.M.12
Olsen, B.R.13
Scambler, P.J.14
-
13
-
-
0025359172
-
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization
-
Kievits T, Dauwerse JG, Wiegant J, Devilee P, Breuning MH, Cornelisse CJ, van Ommen G, Pearson PL: Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet 53:134-136 (1990).
-
(1990)
Cytogenet Cell Genet
, vol.53
, pp. 134-136
-
-
Kievits, T.1
Dauwerse, J.G.2
Wiegant, J.3
Devilee, P.4
Breuning, M.H.5
Cornelisse, C.J.6
Van Ommen, G.7
Pearson, P.L.8
-
14
-
-
0028853347
-
Identification of the chromosome 12 translocation breakpoint region of a pleomorphic salivary gland adenoma with t(1;12)(p22;q15) as the sole cytogenetic abnormality
-
Kools PFJ, Wanschura S, Schoenmakers EFPM, Geurts JMW, Mols R, Kazmierczak B, Bullerdiek J, Van den Berghe H, Van de Ven WJM: Identification of the chromosome 12 translocation breakpoint region of a pleomorphic salivary gland adenoma with t(1;12)(p22;q15) as the sole cytogenetic abnormality. Cancer Genet Cytogenet 79:1-7 (1995).
-
(1995)
Cancer Genet Cytogenet
, vol.79
, pp. 1-7
-
-
Kools, P.F.J.1
Wanschura, S.2
Schoenmakers, E.F.P.M.3
Geurts, J.M.W.4
Mols, R.5
Kazmierczak, B.6
Bullerdiek, J.7
Van den Berghe, H.8
Van de Ven, W.J.M.9
-
15
-
-
0026725180
-
Fluorescence in situ hybridization of YAC clones after Alu-PCR
-
Lengauer C, Green ED, Cremer T: Fluorescence in situ hybridization of YAC clones after Alu-PCR. Genomics 13:826-828 (1992).
-
(1992)
Genomics
, vol.13
, pp. 826-828
-
-
Lengauer, C.1
Green, E.D.2
Cremer, T.3
-
16
-
-
0027329049
-
Characterization of two chromosome 12 cosmid libraries and development of STSs from cosmids mapped by FISH
-
Montgomery KT, LeBlanc JM, Tsai P, McNinch JS, Ward DC, De Jong PJ, Kucherlapati R, Krauter KS: Characterization of two chromosome 12 cosmid libraries and development of STSs from cosmids mapped by FISH. Genomics 17:682-693 (1993).
-
(1993)
Genomics
, vol.17
, pp. 682-693
-
-
Montgomery, K.T.1
LeBlanc, J.M.2
Tsai, P.3
McNinch, J.S.4
Ward, D.C.5
De Jong, P.J.6
Kucherlapati, R.7
Krauter, K.S.8
-
17
-
-
0029871929
-
Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13
-
Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272:548-551 (1996).
-
(1996)
Science
, vol.272
, pp. 548-551
-
-
Muragaki, Y.1
Mundlos, S.2
Upton, J.3
Olsen, B.R.4
-
18
-
-
0028919146
-
Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome
-
Nagai T, Nishimura G, Kato R, Hasegawa T, Ohashi H, Fukushima Y: Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J med Genet 55:16-18 (1995).
-
(1995)
Am J Med Genet
, vol.55
, pp. 16-18
-
-
Nagai, T.1
Nishimura, G.2
Kato, R.3
Hasegawa, T.4
Ohashi, H.5
Fukushima, Y.6
-
19
-
-
0028053136
-
Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.3
-
Nesslinger JN, Gorski LJ, Kurczynski WT, Shapira SK, Siegel-Bartelt J, Dumanski, JP, Cullen Jr RF, French BN, McDermid HE: Clinical, cytogenetic and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J hum Genet 54:464-472 (1994).
-
(1994)
Am J Hum Genet
, vol.54
, pp. 464-472
-
-
Nesslinger, J.N.1
Gorski, L.J.2
Kurczynski, W.T.3
Shapira, S.K.4
Siegel-Bartelt, J.5
Dumanski, J.P.6
Cullen Jr., R.F.7
French, B.N.8
McDermid, H.E.9
-
20
-
-
0020078323
-
Present nosology of the Cenani-Lenz type of syndactyly
-
Pfeiffer R, Meisel-Stosiek M: Present nosology of the Cenani-Lenz type of syndactyly. Clin Genet 21:74-79 (1982).
-
(1982)
Clin Genet
, vol.21
, pp. 74-79
-
-
Pfeiffer, R.1
Meisel-Stosiek, M.2
-
21
-
-
0027468183
-
Isolation of a somatic cell hybrid retaining the der(16),t(12;16)(q13; p11.2) from a myxoid liposarcoma cell line
-
Schoenmakers EFPM, Kools PFJ, Kazmierczak B, Bullerdiek J, Claussen U, Horsthemke B, Van den Berghe H, Van de Ven WJM: Isolation of a somatic cell hybrid retaining the der(16),t(12;16)(q13; p11.2) from a myxoid liposarcoma cell line. Cytogenet Cell Genet 62:159-161 (1993).
-
(1993)
Cytogenet Cell Genet
, vol.62
, pp. 159-161
-
-
Schoenmakers, E.F.P.M.1
Kools, P.F.J.2
Kazmierczak, B.3
Bullerdiek, J.4
Claussen, U.5
Horsthemke, B.6
Van den Berghe, H.7
Van de Ven, W.J.M.8
-
22
-
-
0028216033
-
Physical mapping of chromosome 12q breakpoints in lipoma, pleomorphic salivary gland adenoma, uterine leiomyoma, and myxoid liposarcoma
-
Schoenmakers EFPM, Kools PFJ, Mols R, Kazmierczak B, Bartnitzke S, Bullerdiek J, Dal Cin P, De Jong PJ, Van den Berghe H, Van de Ven WJM: Physical mapping of chromosome 12q breakpoints in lipoma, pleomorphic salivary gland adenoma, uterine leiomyoma, and myxoid liposarcoma. Genomics 20:210-222 (1994).
-
(1994)
Genomics
, vol.20
, pp. 210-222
-
-
Schoenmakers, E.F.P.M.1
Kools, P.F.J.2
Mols, R.3
Kazmierczak, B.4
Bartnitzke, S.5
Bullerdiek, J.6
Dal Cin, P.7
De Jong, P.J.8
Van den Berghe, H.9
Van de Ven, W.J.M.10
-
23
-
-
0030140024
-
Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12
-
Schuster H, Wienker TF, Bähring S, Bilginturan N, Toka HR, Neitzel H, Jeschke E, Toka O, Gilbert D, Lowe A, Ott J, Haller H, Luft FC: Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12. Nature Genet 13:98-100 (1996).
-
(1996)
Nature Genet
, vol.13
, pp. 98-100
-
-
Schuster, H.1
Wienker, T.F.2
Bähring, S.3
Bilginturan, N.4
Toka, H.R.5
Neitzel, H.6
Jeschke, E.7
Toka, O.8
Gilbert, D.9
Lowe, A.10
Ott, J.11
Haller, H.12
Luft, F.C.13
-
24
-
-
0030049543
-
Detection of a familial cryptic translocation by fluorescent in situ hybridisation
-
Smith DP, Floyd M, Say B: Detection of a familial cryptic translocation by fluorescent in situ hybridisation. J med Genet 33:84 (1996).
-
(1996)
J Med Genet
, vol.33
, pp. 84
-
-
Smith, D.P.1
Floyd, M.2
Say, B.3
-
25
-
-
0013656160
-
The genetics of hand malformations
-
The National Foundation March of Dimes/Alan R Liss Inc, New York
-
Temtamy S, McKusick VK: The genetics of hand malformations. Birth Defects: Original Article Series, Vol 14, No 3, pp 301-361 (The National Foundation March of Dimes/Alan R Liss Inc, New York 1978).
-
(1978)
Birth Defects: Original Article Series
, vol.14
, Issue.3
, pp. 301-361
-
-
Temtamy, S.1
McKusick, V.K.2
-
26
-
-
0031202066
-
Silent mutation induces skipping of fibrillin-1 gene in Marfan syndrome
-
Wanguo L, Chiping Q, Uta F: Silent mutation induces skipping of fibrillin-1 gene in Marfan syndrome. Nature Genet 16:328-329 (1997).
-
(1997)
Nature Genet
, vol.16
, pp. 328-329
-
-
Wanguo, L.1
Chiping, Q.2
Uta, F.3
|