-
1
-
-
0023634915
-
Interstitial deletion of the long arm of chromosome 3: Case report, review and definition of a phenotype
-
Alvarado M., Bocian M., Walker A. Interstitial deletion of the long arm of chromosome 3: Case report, review and definition of a phenotype. Am. J. Med. Genet. 27:1987;781-786.
-
(1987)
Am. J. Med. Genet.
, vol.27
, pp. 781-786
-
-
Alvarado, M.1
Bocian, M.2
Walker, A.3
-
2
-
-
0029029527
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
-
Amati P., Chomel J. C., Nivelon-Chevalier A., Gilgenkrantz S., Kitzis A., Kaplan J., Bonneau D. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum. Genet. 96:1995;213-215.
-
(1995)
Hum. Genet.
, vol.96
, pp. 213-215
-
-
Amati, P.1
Chomel, J.C.2
Nivelon-Chevalier, A.3
Gilgenkrantz, S.4
Kitzis, A.5
Kaplan, J.6
Bonneau, D.7
-
3
-
-
0029864808
-
A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23
-
Amati P., Gasparini P., Zlotogora J., Zelante L., Chomel J. C., Kitzis A., Kaplan J., Bonneau D. A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. Am. J. Hum. Genet. 58:1996;1089-1092.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 1089-1092
-
-
Amati, P.1
Gasparini, P.2
Zlotogora, J.3
Zelante, L.4
Chomel, J.C.5
Kitzis, A.6
Kaplan, J.7
Bonneau, D.8
-
4
-
-
0032142771
-
Cellular retinol binding protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the blepharophimosis ptosis epicanthus inversus syndrome gene
-
Bisceglia L., d'Ambrosio L., Piemontese M. R., Carella M., Amati P., Bonneau D., Pilia G., Gasparini P., Zelante L. Cellular retinol binding protein 1 (RBP1): A frequent polymorphism, refined map position and exclusion as the blepharophimosis ptosis epicanthus inversus syndrome gene. Mol. Cell. Probes. 12:1998;255-258.
-
(1998)
Mol. Cell. Probes
, vol.12
, pp. 255-258
-
-
Bisceglia, L.1
D'Ambrosio, L.2
Piemontese, M.R.3
Carella, M.4
Amati, P.5
Bonneau, D.6
Pilia, G.7
Gasparini, P.8
Zelante, L.9
-
5
-
-
0028334689
-
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]
-
Boccone L., Meloni A., Falchi A., Usai V., Cao A. Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]. Am. J. Med. Genet. 51:1994;258-259.
-
(1994)
Am. J. Med. Genet.
, vol.51
, pp. 258-259
-
-
Boccone, L.1
Meloni, A.2
Falchi, A.3
Usai, V.4
Cao, A.5
-
6
-
-
0027410394
-
Another example favouring the location of BPES at 3q2
-
Cabral de Almeida J., Llerena J., Neto J., Jung M., Martins R. Another example favouring the location of BPES at 3q2. J. Med. Genet. 30:1993;86-88.
-
(1993)
J. Med. Genet.
, vol.30
, pp. 86-88
-
-
Cabral De Almeida, J.1
Llerena, J.2
Neto, J.3
Jung, M.4
Martins, R.5
-
8
-
-
0026345679
-
Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes
-
Collins C., Kuo W. L., Segraves R., Fuscoe J., Pinkel D., Gray J. W. Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics. 11:1991;997-1006.
-
(1991)
Genomics
, vol.11
, pp. 997-1006
-
-
Collins, C.1
Kuo, W.L.2
Segraves, R.3
Fuscoe, J.4
Pinkel, D.5
Gray, J.W.6
-
9
-
-
0027433309
-
Cloning and comparative mapping of a human chromosome 4-specific α satellite DNA sequence
-
D'Aiuto L., Antonacci R., Marzella R., Archidiacono N., Rocchi M. Cloning and comparative mapping of a human chromosome 4-specific α satellite DNA sequence. Genomics. 18:1993;230-235.
-
(1993)
Genomics
, vol.18
, pp. 230-235
-
-
D'Aiuto, L.1
Antonacci, R.2
Marzella, R.3
Archidiacono, N.4
Rocchi, M.5
-
10
-
-
0032422348
-
Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta′ subunit gene (beta′-COP) to human chromosome band 3q23 by in situ hybridization
-
De Baere E., Speleman F., Van Roy N., De Paepe A., Messiaen L. Assignment of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta′ subunit gene (beta′-COP) to human chromosome band 3q23 by in situ hybridization. Cytogenet. Cell. Genet. 82:1998;226-227.
-
(1998)
Cytogenet. Cell. Genet.
, vol.82
, pp. 226-227
-
-
De Baere, E.1
Speleman, F.2
Van Roy, N.3
De Paepe, A.4
Messiaen, L.5
-
11
-
-
85030357698
-
Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization
-
De Baere, E. Speleman, F. Van Roy, N. Mortier, K. De Paepe, A. Messiaen, L. Assignment of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization, Cytogenet. Cell. Genet.
-
Cytogenet. Cell. Genet.
-
-
De Baere, E.1
Speleman, F.2
Van Roy, N.3
Mortier, K.4
De Paepe, A.5
Messiaen, L.6
-
13
-
-
0023665920
-
Isolation and characterization of an alphoid DNA sequence recently amplified on human chromosome 3
-
Delattre O., Bernard A., Malfoy B., Marlhens F., Viegas-Pequignot E., Brossard C., Haguenauer O., Creau-Goldberg N., Van Cong N., Dutrillaux B. Isolation and characterization of an alphoid DNA sequence recently amplified on human chromosome 3. Nucleic Acids Res. 15:1987;8561.
-
(1987)
Nucleic Acids Res.
, vol.15
, pp. 8561
-
-
Delattre, O.1
Bernard, A.2
Malfoy, B.3
Marlhens, F.4
Viegas-Pequignot, E.5
Brossard, C.6
Haguenauer, O.7
Creau-Goldberg, N.8
Van Cong, N.9
Dutrillaux, B.10
-
14
-
-
0023664008
-
The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene
-
Demmer L. A., Birkenmeier E. H., Sweetser D. A., Levin M. S., Zollman S., Sparkes R. S., Mohandas T., Lusis A. J., Gordon J. I. The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene. J. Biol. Chem. 262:1987;2458-2467.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 2458-2467
-
-
Demmer, L.A.1
Birkenmeier, E.H.2
Sweetser, D.A.3
Levin, M.S.4
Zollman, S.5
Sparkes, R.S.6
Mohandas, T.7
Lusis, A.J.8
Gordon, J.I.9
-
15
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E., Lathrop M., Gyapay G., Morissette J., Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380:1996;152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
Millasseau, P.7
Marc, S.8
Hazan, J.9
Seboun, E.10
Lathrop, M.11
Gyapay, G.12
Morissette, J.13
Weissenbach, J.14
-
16
-
-
0027443190
-
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23
-
Fryns J. P., Strømme P., van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23. Clin. Genet. 44:1993;149-151.
-
(1993)
Clin. Genet.
, vol.44
, pp. 149-151
-
-
Fryns, J.P.1
Strømme, P.2
Van Den Berghe, H.3
-
17
-
-
0026758081
-
Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome
-
Fujita H., Meng J., Kawamura M., Tozuka N., Ishii F., Tanaka N. Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome. Am. J. Med. Genet. 44:1992;434-436.
-
(1992)
Am. J. Med. Genet.
, vol.44
, pp. 434-436
-
-
Fujita, H.1
Meng, J.2
Kawamura, M.3
Tozuka, N.4
Ishii, F.5
Tanaka, N.6
-
18
-
-
0025734303
-
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23
-
Fukushima Y., Wakui K., Nishida T., Ueoka Y. Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: Possible assignment of the trait to 3q23. Am. J. Med. Genet. 40:1991;485-487.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 485-487
-
-
Fukushima, Y.1
Wakui, K.2
Nishida, T.3
Ueoka, Y.4
-
19
-
-
0025016822
-
Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction
-
Green E., Olson M. Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA. 87:1990;1213-1217.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 1213-1217
-
-
Green, E.1
Olson, M.2
-
20
-
-
0028231090
-
The 1993-94 Généthon human genetic linkage map
-
Gyapay G., Morisette J., Vignal A., Dib C., Fizames C., Millasseau P., Marc S., Bernardi G., Lathrop M., Weissenbach J. The 1993-94 Généthon human genetic linkage map. Nat. Genet. 7:1994;246-339.
-
(1994)
Nat. Genet.
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morisette, J.2
Vignal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
21
-
-
0029091076
-
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
-
Harrar H., Jeffery S., Patton M. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J. Med. Genet. 32:1995;774-777.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 774-777
-
-
Harrar, H.1
Jeffery, S.2
Patton, M.3
-
22
-
-
0027274897
-
A 102 kDa subunit of a Golgi-associated particle has homology to β subunits of trimeric G proteins
-
Harrison-Lavoie K., Lewis V., Hynes G., Collison K., Nutland E., Willison K. A 102 kDa subunit of a Golgi-associated particle has homology to β subunits of trimeric G proteins. EMBO J. 12:1993;2847-2853.
-
(1993)
EMBO J.
, vol.12
, pp. 2847-2853
-
-
Harrison-Lavoie, K.1
Lewis, V.2
Hynes, G.3
Collison, K.4
Nutland, E.5
Willison, K.6
-
23
-
-
0027429045
-
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): A putative gene responsible for microcephaly close to the BPES gene
-
Ishikiriyama S., Goto M. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): A putative gene responsible for microcephaly close to the BPES gene. Am. J. Med. Genet. 47:1993;487-489.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 487-489
-
-
Ishikiriyama, S.1
Goto, M.2
-
24
-
-
0027485381
-
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
-
Jewett T., Rao P., Weaver R., Stewart W., Thomas I., Pettenati M. Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23. Am. J. Med. Genet. 47:1993;1147-1150.
-
(1993)
Am. J. Med. Genet.
, vol.47
, pp. 1147-1150
-
-
Jewett, T.1
Rao, P.2
Weaver, R.3
Stewart, W.4
Thomas, I.5
Pettenati, M.6
-
25
-
-
0028168007
-
Genetic analysis of RXR∝ developmental function: Convergence of RXR and RAR signaling pathways in heart and eye morphogenesis
-
Kastner P., Grondona J., Mark M., Gansmuller A., LeMeur M., Decimo D., Vonesch J., Dollé P., Chambon P. Genetic analysis of RXR∝ developmental function: Convergence of RXR and RAR signaling pathways in heart and eye morphogenesis. Cell. 78:1994;987-1003.
-
(1994)
Cell
, vol.78
, pp. 987-1003
-
-
Kastner, P.1
Grondona, J.2
Mark, M.3
Gansmuller, A.4
Lemeur, M.5
Decimo, D.6
Vonesch, J.7
Dollé, P.8
Chambon, P.9
-
27
-
-
0015121044
-
Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus-A syndrome with no name
-
Kohn R., Romano P. Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus-A syndrome with no name. Am. J. Ophthalmol. 72:1971;625-632.
-
(1971)
Am. J. Ophthalmol.
, vol.72
, pp. 625-632
-
-
Kohn, R.1
Romano, P.2
-
28
-
-
0029034110
-
Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
-
Lawson C., Toomes C., Fryer A., Carette M., Taylor G., Fukushima Y., Dixon M. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum. Mol. Genet. 4:1995;963-967.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 963-967
-
-
Lawson, C.1
Toomes, C.2
Fryer, A.3
Carette, M.4
Taylor, G.5
Fukushima, Y.6
Dixon, M.7
-
29
-
-
0028643562
-
Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum
-
Letourneur F., Gaynor E., Hennecke S., Démollière C., Duden R., Emr S., Riezman H., Cosson P. Coatomer is essential for retrieval of dilysine-tagged proteins to the endoplasmic reticulum. Cell. 79:1994;1199-1207.
-
(1994)
Cell
, vol.79
, pp. 1199-1207
-
-
Letourneur, F.1
Gaynor, E.2
Hennecke, S.3
Démollière, C.4
Duden, R.5
Emr, S.6
Riezman, H.7
Cosson, P.8
-
30
-
-
0029077988
-
Variation in the expression of cellular retinoid binding proteins in human endometrium throughout the menstrual cycle
-
Loughney A. D., Kumarendran M. K., Thomas E. J., Redfern C. P. Variation in the expression of cellular retinoid binding proteins in human endometrium throughout the menstrual cycle. Hum. Reprod. 10:1995;1297-1304.
-
(1995)
Hum. Reprod.
, vol.10
, pp. 1297-1304
-
-
Loughney, A.D.1
Kumarendran, M.K.2
Thomas, E.J.3
Redfern, C.P.4
-
31
-
-
0029850981
-
Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
-
Maw M., Kar B., Biswas J., Biswas P., Nancarrow D., Bridges R., Kumaramanickavel G., Denton M., Badrinath S. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum. Mol. Genet. 5:1996;2049-2054.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 2049-2054
-
-
Maw, M.1
Kar, B.2
Biswas, J.3
Biswas, P.4
Nancarrow, D.5
Bridges, R.6
Kumaramanickavel, G.7
Denton, M.8
Badrinath, S.9
-
32
-
-
0029917215
-
Refined genetic and physical mapping of BPES type II
-
Messiaen L., Leroy B., De Bie S., De Pauw K., Van Roy N., Speleman F., Van Camp G., De Paepe A. Refined genetic and physical mapping of BPES type II. Eur. J. Hum. Genet. 4:1996;34-38.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 34-38
-
-
Messiaen, L.1
Leroy, B.2
De Bie, S.3
De Pauw, K.4
Van Roy, N.5
Speleman, F.6
Van Camp, G.7
De Paepe, A.8
-
33
-
-
0031880477
-
Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23
-
Noda K., Mashima Y., Nakamura Y., Tanaka Y. Blepharophimosis-ptosis-epicanthus inversus syndrome associated with interstitial deletion of chromosome 3q21-23. J. Pediatr. Ophthalmol. Strabismus. 35:1998;242-243.
-
(1998)
J. Pediatr. Ophthalmol. Strabismus
, vol.35
, pp. 242-243
-
-
Noda, K.1
Mashima, Y.2
Nakamura, Y.3
Tanaka, Y.4
-
34
-
-
0023875626
-
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
-
Oley C., Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J. Med. Genet. 25:1988;47-51.
-
(1988)
J. Med. Genet.
, vol.25
, pp. 47-51
-
-
Oley, C.1
Baraitser, M.2
-
35
-
-
0028661187
-
About turn for the COPs
-
Pelham H. About turn for the COPs. Cell. 79:1994;1125-1127.
-
(1994)
Cell
, vol.79
, pp. 1125-1127
-
-
Pelham, H.1
-
36
-
-
12644293812
-
A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci
-
Piemontese M. R., Memeo E., Carella M., Amati P., Chomel J. C., Bonneau D., Pilia G., Cao A., Drabkin H., Gemmill R., Rommens J., Zelante L., Gasparini P., Bisceglia L. A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci. Eur. J. Hum. Genet. 5:1997;171-174.
-
(1997)
Eur. J. Hum. Genet.
, vol.5
, pp. 171-174
-
-
Piemontese, M.R.1
Memeo, E.2
Carella, M.3
Amati, P.4
Chomel, J.C.5
Bonneau, D.6
Pilia, G.7
Cao, A.8
Drabkin, H.9
Gemmill, R.10
Rommens, J.11
Zelante, L.12
Gasparini, P.13
Bisceglia, L.14
-
37
-
-
0024544039
-
Regional mapping of RBP4 to 10q23→q24 and RBP1 to 3q21→q22 in man
-
Rocchi M., Covone A., Romeo G., Faraonio R., Colantuoni V. Regional mapping of RBP4 to 10q23→q24 and RBP1 to 3q21→q22 in man. Somat. Cell Mol. Genet. 15:1989;185-190.
-
(1989)
Somat. Cell Mol. Genet.
, vol.15
, pp. 185-190
-
-
Rocchi, M.1
Covone, A.2
Romeo, G.3
Faraonio, R.4
Colantuoni, V.5
-
38
-
-
10244230901
-
A gene map of the human genome
-
Schuler G., Boguski M., Stewart E., Stein L., Gyapay G., Rice K., White R., Rodriguez-Tomé P., Aggarwal A., Bajorek E., Bentolila S., Birren B., Butler A., Castle A., Chiannilkulchai N., Chu A., Clee C., Cowles S., Day P., Dibling T., Drouot N., Dunham I., Duprat S., East C., Edwards C., Fan J., Fang N., Fizames C., Garrett C., Green L., Hadley D., Harris M., Harrison P., Brady S., Hicks A., Holloway E., Hui L., Hussain S., Louis-Dit-Sully C., Ma J., MacGilvery A., Mader C., Maratukulam A., Matise T., McKusick K., Morissette J., Mungall A., Muselet D., Nusbaum H., Page D., Peck A., Perkins S., Piercy M., Qin F., Quackenbush J., Ranby S., Reif T., Rozen S., Sanders C., She X., Silva J., Slonim D., Soderlund C., Sun W., Tabar P., Thangarajah T., Vega-Czarny N., Vollrath D., Voyticky S., Wilmer T., Wu X., Adams M., Auffray C., Walter N., Brandon R., Dehejia A., Goodfellow P., Houlgatte R., Hudson J. Jr., Ide S., Iorio K., Lee W., Seki N., Nagase T., Ishikawa K., Nomura N., Phillips C., Polymeropoulos M., Sandusky M., Schmitt K., Berry R., Swanson K., Torres R., Venter J., Sikela J., Beckmann J., Weissenbach J., Myers R., Cox D., James M., Bentley D., Deloukas P., Lander E., Hudson T. A gene map of the human genome. Science. 274:1996;540-567.
-
(1996)
Science
, vol.274
, pp. 540-567
-
-
Schuler, G.1
Boguski, M.2
Stewart, E.3
Stein, L.4
Gyapay, G.5
Rice, K.6
White, R.7
Rodriguez-Tomé, P.8
Aggarwal, A.9
Bajorek, E.10
Bentolila, S.11
Birren, B.12
Butler, A.13
Castle, A.14
Chiannilkulchai, N.15
Chu, A.16
Clee, C.17
Cowles, S.18
Day, P.19
Dibling, T.20
Drouot, N.21
Dunham, I.22
Duprat, S.23
East, C.24
Edwards, C.25
Fan, J.26
Fang, N.27
Fizames, C.28
Garrett, C.29
Green, L.30
Hadley, D.31
Harris, M.32
Harrison, P.33
Brady, S.34
Hicks, A.35
Holloway, E.36
Hui, L.37
Hussain, S.38
Louis-Dit-Sully, C.39
Ma, J.40
MacGilvery, A.41
Mader, C.42
Maratukulam, A.43
Matise, T.44
McKusick, K.45
Morissette, J.46
Mungall, A.47
Muselet, D.48
Nusbaum, H.49
Page, D.50
Peck, A.51
Perkins, S.52
Piercy, M.53
Qin, F.54
Quackenbush, J.55
Ranby, S.56
Reif, T.57
Rozen, S.58
Sanders, C.59
She, X.60
Silva, J.61
Slonim, D.62
Soderlund, C.63
Sun, W.64
Tabar, P.65
Thangarajah, T.66
Vega-Czarny, N.67
Vollrath, D.68
Voyticky, S.69
Wilmer, T.70
Wu, X.71
Adams, M.72
Auffray, C.73
Walter, N.74
Brandon, R.75
Dehejia, A.76
Goodfellow, P.77
Houlgatte, R.78
Hudson J., Jr.79
Ide, S.80
Iorio, K.81
Lee, W.82
Seki, N.83
Nagase, T.84
Ishikawa, K.85
Nomura, N.86
Phillips, C.87
Polymeropoulos, M.88
Sandusky, M.89
Schmitt, K.90
Berry, R.91
Swanson, K.92
Torres, R.93
Venter, J.94
Sikela, J.95
Beckmann, J.96
Weissenbach, J.97
Myers, R.98
Cox, D.99
more..
-
39
-
-
0028926103
-
Blepharophimosis syndrome is linked to chromosome 3q
-
Small K., Stalvey M., Fisher L., Mullen L., Dickel C., Beadles K., Reimer R., Lessner A., Lewis K., Pericak-Vance M. Blepharophimosis syndrome is linked to chromosome 3q. Hum. Mol. Genet. 4:1995;443-448.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 443-448
-
-
Small, K.1
Stalvey, M.2
Fisher, L.3
Mullen, L.4
Dickel, C.5
Beadles, K.6
Reimer, R.7
Lessner, A.8
Lewis, K.9
Pericak-Vance, M.10
-
40
-
-
0026505059
-
Detection of subtle reciprocal translocations by fluorescence in situ hybridization
-
Speleman F., Van Roy N., Wiegant J., Verschraegen-Spae M. R., Benoit Y., Govaert P., Goossens L., Leroy J. G. Detection of subtle reciprocal translocations by fluorescence in situ hybridization. Clin. Genet. 41:1992;169-174.
-
(1992)
Clin. Genet.
, vol.41
, pp. 169-174
-
-
Speleman, F.1
Van Roy, N.2
Wiegant, J.3
Verschraegen-Spae, M.R.4
Benoit, Y.5
Govaert, P.6
Goossens, L.7
Leroy, J.G.8
-
41
-
-
0024370323
-
Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
-
Temple I., Baraister M. Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). J. Med. Genet. 26:1989;517-519.
-
(1989)
J. Med. Genet.
, vol.26
, pp. 517-519
-
-
Temple, I.1
Baraister, M.2
-
42
-
-
0032212837
-
Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23
-
Toomes C., Dixon M. Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23. Genomics. 53:1998;308-314.
-
(1998)
Genomics
, vol.53
, pp. 308-314
-
-
Toomes, C.1
Dixon, M.2
-
43
-
-
0018418139
-
Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhea: A dominant trait
-
Townes P., Muechler E. Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhea: A dominant trait. Arch. Ophthalmol. 97:1979;1664-1666.
-
(1979)
Arch. Ophthalmol.
, vol.97
, pp. 1664-1666
-
-
Townes, P.1
Muechler, E.2
-
44
-
-
0028912894
-
Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus and developmental delay
-
Warburg M., Bugge M., Brondum-Nielsen K. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus and developmental delay. J. Med. Genet. 32:1995;19-24.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 19-24
-
-
Warburg, M.1
Bugge, M.2
Brondum-Nielsen, K.3
-
45
-
-
0027964344
-
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23))
-
Wolstenholme J., Brown J., Masters K., Wright C., English C. Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). J. Med. Genet. 31:1994;647-648.
-
(1994)
J. Med. Genet.
, vol.31
, pp. 647-648
-
-
Wolstenholme, J.1
Brown, J.2
Masters, K.3
Wright, C.4
English, C.5
-
46
-
-
0020508397
-
The blepharophimosis, ptosis and epicanthus inversus syndrome: Delineation of two types
-
Zlotogora J., Sagi M., Cohen T. The blepharophimosis, ptosis and epicanthus inversus syndrome: Delineation of two types. Am. J. Hum. Genet. 35:1983;1020-1027.
-
(1983)
Am. J. Hum. Genet.
, vol.35
, pp. 1020-1027
-
-
Zlotogora, J.1
Sagi, M.2
Cohen, T.3
|