-
1
-
-
0026322066
-
Molecular confirmation of Wolf-Hirschhorn syndrome with a subie translocation of chromosome 4
-
Altherr MR, Bengtsson U, Elder FFB, Ledbetter DH, Wasmuth JJ, McDonald ME, Gusella JF, Greenberg F (1991) Molecular confirmation of Wolf-Hirschhorn syndrome with a subie translocation of chromosome 4. Am J Hum Genet 49:1235-1242
-
(1991)
Am J Hum Genet
, vol.49
, pp. 1235-1242
-
-
Altherr, M.R.1
Bengtsson, U.2
Elder, F.F.B.3
Ledbetter, D.H.4
Wasmuth, J.J.5
McDonald, M.E.6
Gusella, J.F.7
Greenberg, F.8
-
2
-
-
0028939240
-
Duplication 3q syndrome: Molecular delineation of the critical region
-
Aqua MS, Rizzu P, Lindsay EA, Shaffer LG, Zackai EH, Overhauser J, Baldini A (1995) Duplication 3q syndrome: molecular delineation of the critical region. Am J Med Genet 2:33-37
-
(1995)
Am J Med Genet
, vol.2
, pp. 33-37
-
-
Aqua, M.S.1
Rizzu, P.2
Lindsay, E.A.3
Shaffer, L.G.4
Zackai, E.H.5
Overhauser, J.6
Baldini, A.7
-
3
-
-
0032842533
-
Probing the human genome in search for a new 3q syndrome
-
Azar GM, Conte RA, Kleyman SM, Logush AZ, Verma RS (1999) Probing the human genome in search for a new 3q syndrome. Ann Genet 42:95-100
-
(1999)
Ann Genet
, vol.42
, pp. 95-100
-
-
Azar, G.M.1
Conte, R.A.2
Kleyman, S.M.3
Logush, A.Z.4
Verma, R.S.5
-
4
-
-
0029068708
-
Detection of a subtle rearrangement of chromosome 22 using molecular techniques
-
Biesecker LG, Rosenberg M, Dziadzio L, Ledbetter DH, Ning Y, Sarneso C, Rosenbaum K (1995) Detection of a subtle rearrangement of chromosome 22 using molecular techniques. Am J Med Genet 58:389-394
-
(1995)
Am J Med Genet
, vol.58
, pp. 389-394
-
-
Biesecker, L.G.1
Rosenberg, M.2
Dziadzio, L.3
Ledbetter, D.H.4
Ning, Y.5
Sarneso, C.6
Rosenbaum, K.7
-
5
-
-
0000358890
-
Ein fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung)
-
Brachmann W (1916) Ein Fall von symmetrischer Monodaktylie durch Ulnadefekt, mit symmetrischer Flughautbildung in den Ellenbeugen, sowie anderen Abnormitäten (Zwerghaftigkeit, Halsrippen, Behaarung). Jahrb Kinder Phys Erziehung 84:225-235
-
(1916)
Jahrb Kinder Phys Erziehung
, vol.84
, pp. 225-235
-
-
Brachmann, W.1
-
6
-
-
0026345679
-
Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes
-
Collins C, Kuo WL, Segraves R, Fuscoe J, Pinkel D, Gray JW (1991) Construction and characterization of plasmid libraries enriched in sequences from single human chromosomes. Genomics 11:997-1006
-
(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
-
7
-
-
0032425161
-
An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH)
-
Eils R, Uhrig S, Saracoglu K, Satzler K, Bolzer A, Petersen I, Chassery J, Ganser M, Speicher MR (1998) An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH). Cytogenet Cell Genet 82:160-171
-
(1998)
Cytogenet Cell Genet
, vol.82
, pp. 160-171
-
-
Eils, R.1
Uhrig, S.2
Saracoglu, K.3
Satzler, K.4
Bolzer, A.5
Petersen, I.6
Chassery, J.7
Ganser, M.8
Speicher, M.R.9
-
8
-
-
0013864758
-
Familial de Lange syndrome with chromosome abnormalities
-
Falek A, Schmidt R, Jervis GA (1966) Familial de Lange syndrome with chromosome abnormalities. Pediatrics 37:92-101
-
(1966)
Pediatrics
, vol.37
, pp. 92-101
-
-
Falek, A.1
Schmidt, R.2
Jervis, G.A.3
-
9
-
-
0028798545
-
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
-
Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9: 132-140
-
(1995)
Nat Genet
, vol.9
, pp. 132-140
-
-
Flint, J.1
Wilkie, A.O.2
Buckle, V.J.3
Winter, R.M.4
Holland, A.J.5
McDermid, H.E.6
-
10
-
-
0018174929
-
Clinical syndromes associated with partial duplications of chromosomes 2 and 3:Dup (2p), dup (2q), dup (3p), dup(3q)
-
Francke U (1978) Clinical syndromes associated with partial duplications of chromosomes 2 and 3:dup (2p), dup (2q), dup (3p), dup(3q). Birth Defects 14:191-217
-
(1978)
Birth Defects
, vol.14
, pp. 191-217
-
-
Francke, U.1
-
11
-
-
0018497405
-
Chromosome 3q duplication and the Brachmann de Lange syndrome (BDLS)
-
Francke U, Opitz JM (1979) Chromosome 3q duplication and the Brachmann de Lange syndrome (BDLS). J Pediatr 95:161-162
-
(1979)
J Pediatr
, vol.95
, pp. 161-162
-
-
Francke, U.1
Opitz, J.M.2
-
12
-
-
0029028370
-
Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
-
Gersh M, Goodart SA, Pasztor LM, Harris DJ, Weiss L, Overhauser J (1995) Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 56:1404-1410
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1404-1410
-
-
Gersh, M.1
Goodart, S.A.2
Pasztor, L.M.3
Harris, D.J.4
Weiss, L.5
Overhauser, J.6
-
13
-
-
0030962383
-
Molecular-cytogenetic detection of a deletion of 1p36.3
-
Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, Flint J (1997) Molecular-cytogenetic detection of a deletion of 1p36.3. J Med Genet 34:314-317
-
(1997)
J Med Genet
, vol.34
, pp. 314-317
-
-
Giraudeau, F.1
Aubert, D.2
Young, I.3
Horsley, S.4
Knight, S.5
Kearney, L.6
Vergnaud, G.7
Flint, J.8
-
14
-
-
0025898874
-
A de novo translocation t (3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome
-
Ireland M, English C, Cross I, Houlsby WT, Burn J (1991) A de novo translocation t (3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome. J Med Genet 28:639-640
-
(1991)
J Med Genet
, vol.28
, pp. 639-640
-
-
Ireland, M.1
English, C.2
Cross, I.3
Houlsby, W.T.4
Burn, J.5
-
15
-
-
0030960829
-
Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres
-
Knight SJL, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy DLN, Flint J, Kearney L (1997) Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 5:1-8
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 1-8
-
-
Knight, S.J.L.1
Horsley, S.W.2
Regan, R.3
Lawrie, N.M.4
Maher, E.J.5
Cardy, D.L.N.6
Flint, J.7
Kearney, L.8
-
16
-
-
0033552424
-
Subtle chromosomal rearrangements in children with unexplained mental retardation
-
Knight SJ, Regan R, Nicod A, Horslea SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J (1999) Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681
-
(1999)
Lancet
, vol.354
, pp. 1676-1681
-
-
Knight, S.J.1
Regan, R.2
Nicod, A.3
Horslea, S.W.4
Kearney, L.5
Homfray, T.6
Winter, R.M.7
Bolton, P.8
Flint, J.9
-
17
-
-
0026094183
-
Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization
-
Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH (1991) Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization. Am J Hum Genet 49:707-714
-
(1991)
Am J Hum Genet
, vol.49
, pp. 707-714
-
-
Kuwano, A.1
Ledbetter, S.A.2
Dobyns, W.B.3
Emanuel, B.S.4
Ledbetter, D.H.5
-
18
-
-
0024326126
-
Detection of breakpoints in submicroscopic chromosomal translocation, illustration an important mechanism for genetic disease
-
Lamb J, Wilkie AO, Harris PC, Buckle VJ, Lindenbaum RH, Barton NJ, Reeders ST, Weatherall DJ, Higgs DR (1989) Detection of breakpoints in submicroscopic chromosomal translocation, illustration an important mechanism for genetic disease. Lancet 2:819-824
-
(1989)
Lancet
, vol.2
, pp. 819-824
-
-
Lamb, J.1
Wilkie, A.O.2
Harris, P.C.3
Buckle, V.J.4
Lindenbaum, R.H.5
Barton, N.J.6
Reeders, S.T.7
Weatherall, D.J.8
Higgs, D.R.9
-
19
-
-
0001547083
-
Sur un type nouveau de degenerescence (typus Amstelodamensis)
-
Lange de C (1933) Sur un type nouveau de degenerescence (typus Amstelodamensis). Arch Med Enfants 36:713-719
-
(1933)
Arch Med Enfants
, vol.36
, pp. 713-719
-
-
Lange De, C.1
-
20
-
-
0026746602
-
Cryptic translocations and telomere integrity
-
Ledbetter DH (1992) Cryptic translocations and telomere integrity. Am J Hum Genet 51:451-456
-
(1992)
Am J Hum Genet
, vol.51
, pp. 451-456
-
-
Ledbetter, D.H.1
-
21
-
-
78651114072
-
Trois cas de deletion partielle du bras court d'un chromosome 5
-
Lejeune J, Lafourcade J, Berger R, et al (1963) Trois cas de deletion partielle du bras court d'un chromosome 5. C R Acad Sci (Paris) 257:3098
-
(1963)
C R Acad Sci (Paris)
, vol.257
, pp. 3098
-
-
Lejeune, J.1
Lafourcade, J.2
Berger, R.3
-
22
-
-
0026725180
-
Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification
-
Lengauer C, Green ED, Cremer T (1992) Fluorescence in situ hybridization of YAC clones after Alu-PCR amplification. Genomics 13:826-828
-
(1992)
Genomics
, vol.13
, pp. 826-828
-
-
Lengauer, C.1
Green, E.D.2
Cremer, T.3
-
23
-
-
0000579784
-
Chromosome analysis by non-isotopic in situ hybridization
-
Rooney DE, Czepulkowski BH (eds) IRL, Oxford
-
Lichter P, Cremer T (1992) Chromosome analysis by non-isotopic in situ hybridization. In Rooney DE, Czepulkowski BH (eds) Human cytogenetics - a practical approach, vol F, 2nd edn. IRL, Oxford, pp 157-192
-
(1992)
Human Cytogenetics - A Practical Approach, Vol F, 2nd Edn.
, pp. 157-192
-
-
Lichter, P.1
Cremer, T.2
-
24
-
-
0018568354
-
Trisomy 3q: Two clinically similar but cytogenetically different cases
-
Mulcahy MT, Pemberton PJ, Sprague P (1979) Trisomy 3q: two clinically similar but cytogenetically different cases. Ann Genet 22:217-220
-
(1979)
Ann Genet
, vol.22
, pp. 217-220
-
-
Mulcahy, M.T.1
Pemberton, P.J.2
Sprague, P.3
-
25
-
-
0018137411
-
The cri-du-chat syndrome, epidemiology, cytogenetics and clinical features
-
Niebuhr E (1978a) The cri-du-chat syndrome, epidemiology, cytogenetics and clinical features. Hum Genet 44:227-275
-
(1978)
Hum Genet
, vol.44
, pp. 227-275
-
-
Niebuhr, E.1
-
26
-
-
0017898839
-
Cytologic observations in 35 individuals with a 5p karyotype
-
Niebuhr E (1978b) Cytologic observations in 35 individuals with a 5p karyotype. Hum Genet 42:142-156
-
(1978)
Hum Genet
, vol.42
, pp. 142-156
-
-
Niebuhr, E.1
-
27
-
-
16044371402
-
A complete set of human telomeric probes and their clinical application
-
Ning Y, Roschke A, Smith ACM, Macha M, Precht K, Riethman H, Ledbetter DH, Flint J, Horsley S, Regan R, Kearney L, Knight S, Kvaloy K, Brown WRA (1996) A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89
-
(1996)
Nat Genet
, vol.14
, pp. 86-89
-
-
Ning, Y.1
Roschke, A.2
Smith, A.C.M.3
Macha, M.4
Precht, K.5
Riethman, H.6
Ledbetter, D.H.7
Flint, J.8
Horsley, S.9
Regan, R.10
Kearney, L.11
Knight, S.12
Kvaloy, K.13
Brown, W.R.A.14
-
28
-
-
0024442160
-
Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5
-
Overhauser J, Bengtsson U, McMahon J, Ulm J, Butler MG, Santiago L, Wasmuth JJ (1989) Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet 45:296-303
-
(1989)
Am J Hum Genet
, vol.45
, pp. 296-303
-
-
Overhauser, J.1
Bengtsson, U.2
McMahon, J.3
Ulm, J.4
Butler, M.G.5
Santiago, L.6
Wasmuth, J.J.7
-
29
-
-
0028054658
-
Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the Cri-du-chat syndrome
-
Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ (1994) Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the Cri-du-chat syndrome. Hum Mol Genet 3:247-252
-
(1994)
Hum Mol Genet
, vol.3
, pp. 247-252
-
-
Overhauser, J.1
Huang, X.2
Gersh, M.3
Wilson, W.4
McMahon, J.5
Bengtsson, U.6
Rojas, K.7
Meyer, M.8
Wasmuth, J.J.9
-
30
-
-
0024345904
-
Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector
-
Riethman HC, Moyzis RK, Meyne J, Burke DT, Olson MV (1989) Cloning human telomeric DNA fragments into Saccharomyces cerevisiae using a yeast-artificial-chromosome vector. Proc Natl Acad Sci USA 86:6240-6244
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 6240-6244
-
-
Riethman, H.C.1
Moyzis, R.K.2
Meyne, J.3
Burke, D.T.4
Olson, M.V.5
-
31
-
-
0028558375
-
Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome
-
Rizzu P, Baldini A (1994) Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome. Genomics 24:580-582
-
(1994)
Genomics
, vol.24
, pp. 580-582
-
-
Rizzu, P.1
Baldini, A.2
-
32
-
-
0031037329
-
Delineation of a duplication map of chromosome 3q: A new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region
-
Rizzu P, Haddad BR, Vallcorba, I Alonso A, Ferro MT, Garcia-Sagredo JM, Baldini A (1997) Delineation of a duplication map of chromosome 3q: a new case confirms the exclusion of 3q25-q26.2 from the duplication 3q syndrome critical region. Am J Med Genet 11:428-432
-
(1997)
Am J Med Genet
, vol.11
, pp. 428-432
-
-
Rizzu, P.1
Haddad, B.R.2
Vallcorba3
Alonso A. I4
Ferro, M.T.5
Garcia-Sagredo, J.M.6
Baldini, A.7
-
33
-
-
0026771276
-
The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes
-
Saccone S, De Sario A, della Valle G, Bernardi G (1992) The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc Natl Acad Sci USA 89:4913-4917
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4913-4917
-
-
Saccone, S.1
De Sario, A.2
Della Valle, G.3
Bernardi, G.4
-
34
-
-
0032901062
-
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
-
Slavotinek A, Rodenberg M, Knight S (1999) Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411
-
(1999)
J Med Genet
, vol.36
, pp. 405-411
-
-
Slavotinek, A.1
Rodenberg, M.2
Knight, S.3
-
35
-
-
0032763778
-
Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes
-
Smith M, Herrell S, Lusher M, Lako L, Simpson C, Wiestner A, Skoda R, Ireland M, Strachan T (1999) Genomic organisation of the human chordin gene and mutation screening of candidate Cornelia de Lange syndrome genes. Hum Genet 105:104-111
-
(1999)
Hum Genet
, vol.105
, pp. 104-111
-
-
Smith, M.1
Herrell, S.2
Lusher, M.3
Lako, L.4
Simpson, C.5
Wiestner, A.6
Skoda, R.7
Ireland, M.8
Strachan, T.9
-
36
-
-
0029912473
-
Karyotyping human chromosomes by combinatorial multi-fluor FISH
-
Speicher MR, Ballard SG, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12:368-375
-
(1996)
Nat Genet
, vol.12
, pp. 368-375
-
-
Speicher, M.R.1
Ballard, S.G.2
Ward, D.C.3
-
37
-
-
0019795274
-
The dup(3q) syndrome: Report of eight cases and review of literature
-
Steinbach P, Adkins WN, Caspar H Dumars KW, Gebauer J, Gilbert EF, Grimm T, Habedank M, Hansmann I, Herrmann J, Kaveggia EG, Langenbeck U, Meisner LF, Najafzadeh TM, Opitz JM, Palmer CG, Peters HH, Scholz W, Tavares AS, Wiedeking C (1981) The dup(3q) syndrome: report of eight cases and review of literature. Am J Med Genet 10:159-177
-
(1981)
Am J Med Genet
, vol.10
, pp. 159-177
-
-
Steinbach, P.1
Adkins, W.N.2
Caspar, H.3
Dumars, K.W.4
Gebauer, J.5
Gilbert, E.F.6
Grimm, T.7
Habedank, M.8
Hansmann, I.9
Herrmann, J.10
Kaveggia, E.G.11
Langenbeck, U.12
Meisner, L.F.13
Najafzadeh, T.M.14
Opitz, J.M.15
Palmer, C.G.16
Peters, H.H.17
Scholz, W.18
Tavares, A.S.19
Wiedeking, C.20
more..
-
39
-
-
0033362090
-
Multiplex-FISH for pre-and postnatal diagnostic applications
-
Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, Muller-Navia J, Cremer T, Murken J, Speicher MR (1999) Multiplex-FISH for pre-and postnatal diagnostic applications. Am J Med Genet 65:448-462
-
(1999)
Am J Med Genet
, vol.65
, pp. 448-462
-
-
Uhrig, S.1
Schuffenhauer, S.2
Fauth, C.3
Wirtz, A.4
Daumer-Haas, C.5
Apacik, C.6
Cohen, M.7
Muller-Navia, J.8
Cremer, T.9
Murken, J.10
Speicher, M.R.11
-
40
-
-
0030587435
-
Mapping human telomere regions with YAC and P1 clones: Chromosome-specific markers for 27 telomeres including 149 STSs and 24 polymorphisms for 14 proterminal regions
-
Vocero-Akbani A, Helms C, Wang JC, Sanjurjo FJ, Korte-Sarfaty J, Veile RA, Liu L, Jauch A, Burgess AK, Hing AV, Holt MS, Ramachandra S, Whelan AJ, Anker R, Ahrent L, Chen M, Gavin MR, Iannantuoni K, Morton SM, Pandit SD, Read CM, Steinbrueck T, Warlick C, Smoller DA, Donis-Keller H (1996) Mapping human telomere regions with YAC and P1 clones: chromosome-specific markers for 27 telomeres including 149 STSs and 24 polymorphisms for 14 proterminal regions. Genomics 36:492-506
-
(1996)
Genomics
, vol.36
, pp. 492-506
-
-
Vocero-Akbani, A.1
Helms, C.2
Wang, J.C.3
Sanjurjo, F.J.4
Korte-Sarfaty, J.5
Veile, R.A.6
Liu, L.7
Jauch, A.8
Burgess, A.K.9
Hing, A.V.10
Holt, M.S.11
Ramachandra, S.12
Whelan, A.J.13
Anker, R.14
Ahrent, L.15
Chen, M.16
Gavin, M.R.17
Iannantuoni, K.18
Morton, S.M.19
Pandit, S.D.20
Read, C.M.21
Steinbrueck, T.22
Warlick, C.23
Smoller, D.A.24
Donis-Keller, H.25
more..
|