Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

305 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Cloning of the T gene required in mesoderm formation in the mouse.
Herrmann BG, Labeit S, Poustka A, King TR, Lehrach H. Herrmann BG, et al. Among authors: poustka a. Nature. 1990 Feb 15;343(6259):617-22. doi: 10.1038/343617a0. Nature. 1990. PMID: 2154694
We have isolated the T gene using a combination of molecular and genetic techniques, thus making molecular tools available to study processes underlying mesoderm formation in the mouse....
We have isolated the T gene using a combination of molecular and genetic techniques, thus making molecular tools available to study p …
The DNA sequence of the human X chromosome.
Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glöckner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Müller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR. Ross MT, et al. Among authors: poustka a. Nature. 2005 Mar 17;434(7031):325-37. doi: 10.1038/nature03440. Nature. 2005. PMID: 15772651 Free PMC article.
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. ...LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stati …
The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. ...LI …
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast.
Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N. Laporte J, et al. Among authors: poustka a. Nat Genet. 1996 Jun;13(2):175-82. doi: 10.1038/ng0696-175. Nat Genet. 1996. PMID: 8640223
The protein encoded by the MTM1 gene is highly conserved in yeast, which is surprising for a muscle specific disease. The protein contains the consensus sequence for the active site of tyrosine phosphatases, a wide class of proteins involved in signal transduction. …
The protein encoded by the MTM1 gene is highly conserved in yeast, which is surprising for a muscle specific disease. The protein con …
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene.
Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B. Dittrich B, et al. Among authors: poustka a. Nat Genet. 1996 Oct;14(2):163-70. doi: 10.1038/ng1096-163. Nat Genet. 1996. PMID: 8841186
Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100-kb region including exon 1 of SNRPN. ...We have also identified intragenic deletions and a point mutation in patients who have Angelman or Prader-Willi syndrome du …
Imprinting on human chromosome 15 is regulated by an imprinting centre, which has been mapped to a 100-kb region including exon 1 of …
Fragile X syndrome without CCG amplification has an FMR1 deletion.
Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B, Poustka A, Yu S, Sutherland GR, et al. Gedeon AK, et al. Among authors: poustka a. Nat Genet. 1992 Aug;1(5):341-4. doi: 10.1038/ng0892-341. Nat Genet. 1992. PMID: 1302032
The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 megabases of flanking sequences. ...We also found random X-inactivation in the mother of the patient who was shown to be a carrier of …
The patient has a previously uncharacterized submicroscopic deletion encompassing the CCG repeat, the entire FMR1 gene and about 2.5 …
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. Heiss NS, et al. Among authors: poustka a. Nat Genet. 1998 May;19(1):32-8. doi: 10.1038/ng0598-32. Nat Genet. 1998. PMID: 9590285
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3' deletion in one DKC patient with a cDNA probe (derived from XAP101). ...Th …
X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 2 …
DMBT1, a new member of the SRCR superfamily, on chromosome 10q25.3-26.1 is deleted in malignant brain tumours.
Mollenhauer J, Wiemann S, Scheurlen W, Korn B, Hayashi Y, Wilgenbus KK, von Deimling A, Poustka A. Mollenhauer J, et al. Among authors: poustka a. Nat Genet. 1997 Sep;17(1):32-9. doi: 10.1038/ng0997-32. Nat Genet. 1997. PMID: 9288095
We have used representational difference analysis to identify a homozygous deletion at 10q25.3-26.1 in a medulloblastoma cell line and have cloned a novel gene, DMBT1, spanning this deletion. ...We suggest that DMBT1 is a putative tumour-suppressor gen …
We have used representational difference analysis to identify a homozygous deletion at 10q25.3-26.1 in a medulloblastoma cell …
Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping.
Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. Gessler M, et al. Among authors: poustka a. Nature. 1990 Feb 22;343(6260):774-8. doi: 10.1038/343774a0. Nature. 1990. PMID: 2154702
The underlying loci have since been resolved into an aniridia (AN2) locus at a telomeric position, and a locus of closely spaced genes or a single pleiotropic gene involved in genito-urinary tract abnormalities and Wilms tumour at a more centromeric po …
The underlying loci have since been resolved into an aniridia (AN2) locus at a telomeric position, and a locus of closely spac …
Construction of a NotI linking library and isolation of new markers close to the Huntington's disease gene.
Pohl TM, Zimmer M, MacDonald ME, Smith B, Bucan M, Poustka A, Volinia S, Searle S, Zehetner G, Wasmuth JJ, et al. Pohl TM, et al. Among authors: poustka a. Nucleic Acids Res. 1988 Oct 11;16(19):9185-98. doi: 10.1093/nar/16.19.9185. Nucleic Acids Res. 1988. PMID: 2971929 Free PMC article.
We have constructed and used a NotI linking clone library representing unmethylated NotI sites from HHW693 DNA, a hamster hybrid cell line containing 4p15-4pter and a fragment of 5p as its only human chromosome contribution. Human clones were identified by hy …
We have constructed and used a NotI linking clone library representing unmethylated NotI sites from HHW693 DNA, a hamster hybr …
Construction and use of human chromosome jumping libraries from NotI-digested DNA.
Poustka A, Pohl TM, Barlow DP, Frischauf AM, Lehrach H. Poustka A, et al. Nature. 1987 Jan 22-28;325(6102):353-5. doi: 10.1038/325353a0. Nature. 1987. PMID: 3027567
As a first step in a directional walk, the library was screened with a clone containing a NotI site cleaved in genomic DNA ('NotI linking clone') localized to the distal third of the short arm of human chromosome 4 (A....Starting and end points …
As a first step in a directional walk, the library was screened with a clone containing a NotI site cleaved in g …
305 results
Jump to page
Feedback