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Results: 1 to 20 of 85

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1.

A manually curated functional annotation of the human X chromosome.

Harsha HC, Suresh S, Amanchy R, Deshpande N, Shanker K, Yatish AJ, Muthusamy B, Vrushabendra BM, Rashmi BP, Chandrika KN, Padma N, Sharma S, Badano JL, Ramya MA, Shivashankar HN, Peri S, Choudhury DR, Kavitha MP, Saravana R, Niranjan V, Gandhi TK, Ghosh N, Chandran S, Menezes M, Joy M, Mohan SS, Katsanis N, Deshpande KS, Raghothama C, Prasad CK, Pandey A.

Nat Genet. 2005 Apr;37(4):331-2. No abstract available.

PMID:
15800640
2.

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.

Nature. 2005 Mar 17;434(7031):325-37.

3.

CHROMOSOME STUDIES ON TESTICULAR TISSUE CULTURES AND BLOOD LEUKOCYTES OF A MALE PREVIOUSLY REPORTED TO HAVE NO Y CHROMOSOME.

SOLOMON IL, HAMM CW, GREEN OC.

N Engl J Med. 1964 Sep 17;271:586-92. No abstract available.

PMID:
14172968
4.

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

Heine-Suñer D, Torres-Juan L, Morlà M, Busquets X, Barceló F, Picó G, Bonilla L, Govea N, Bernués M, Rosell J.

Am J Med Genet A. 2003 Oct 1;122A(2):108-14.

PMID:
12955761
5.

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM.

Prenat Diagn. 2003 Feb;23(2):143-5. Review.

PMID:
12575022
6.

Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disorders.

Plenge RM, Stevenson RA, Lubs HA, Schwartz CE, Willard HF.

Am J Hum Genet. 2002 Jul;71(1):168-73. Epub 2002 May 30.

7.
8.

Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR.

Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M.

Prenat Diagn. 1999 Dec;19(12):1099-103.

PMID:
10590424
9.

FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue.

Alvarez-Nava F, Martínez MC, González S, Soto M, Borjas L, Rojas A.

Clin Genet. 1999 May;55(5):356-61.

PMID:
10422807
10.

Small supernumerary ring X chromosome in a four-month-old girl.

Huang B, Lamb A, Dorian A, Brumblay J, Powell B.

Am J Med Genet. 1999 Jul 16;85(2):191-3. No abstract available.

PMID:
10406677
11.

Stable dicentric X chromosomes with two functional centromeres.

Sullivan BA, Willard HF.

Nat Genet. 1998 Nov;20(3):227-8. No abstract available.

PMID:
9806536
13.

A multicenter investigation with interphase fluorescence in situ hybridization using X- and Y-chromosome probes.

Dewald G, Stallard R, Al Saadi A, Arnold S, Bader PI, Blough R, Chen K, Elejalde BR, Harris CJ, Higgins RR, Hoeltge GA, Hsu WT, Kubic V, McCorquodale DJ, Micale MA, Moore JW, Phillips RM, Scheib-Wixted S, Schwartz S, Siembieda S, Strole K, VanTuinen P, Vance GH, Wiktor A, Zinsmeister A, et al.

Am J Med Genet. 1998 Apr 1;76(4):318-26.

PMID:
9545096
14.

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism.

Lau AW, Brown CJ, Peñaherrera M, Langlois S, Kalousek DK, Robinson WP.

Am J Hum Genet. 1997 Dec;61(6):1353-61.

15.

X chromosome inactivation and micronuclei in normal and Turner individuals.

Hando JC, Tucker JD, Davenport M, Tepperberg J, Nath J.

Hum Genet. 1997 Oct;100(5-6):624-8.

PMID:
9341883
16.

Rapid identification of marker chromosomes using primed in situ labeling (PRINS).

Velagaleti GV, Tharapel SA, Martens PR, Tharapel AT.

Am J Med Genet. 1997 Aug 8;71(2):130-3.

PMID:
9217209
17.

Sex chromosome markers: characterization using fluorescence in situ hybridization and review of the literature.

Schwartz S, Depinet TW, Leana-Cox J, Isada NB, Karson EM, Park VM, Pasztor LM, Sheppard LC, Stallard R, Wolff DJ, Zinn AB, Zurcher VL, Zackowski JL.

Am J Med Genet. 1997 Jul 11;71(1):1-7. Review.

PMID:
9215760
18.

FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients.

Bettio D, Rizzi N, Giardino D, Gurrieri F, Silvestri G, Grugni G, Larizza L.

Am J Med Genet. 1997 Jan 10;68(1):99-104.

PMID:
8986287
19.

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations.

Ravnan JB, Chen E, Golabi M, Lebo RV.

Am J Med Genet. 1996 Dec 18;66(3):250-6.

PMID:
8985481
20.

Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW.

Am J Hum Genet. 1997 Jan;60(1):160-5.

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