Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 181

1.

A patient with 9q subtelomeric deletion syndrome with additional findings.

Tug E, Cavdarli B, Karaoguz MY, Percin FE.

Genet Couns. 2012;23(4):465-71.

PMID:
23431745
[PubMed - indexed for MEDLINE]
2.

A further patient with van Maldergem syndrome.

Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N.

Eur J Med Genet. 2012 Jun;55(6-7):423-8. doi: 10.1016/j.ejmg.2012.02.012. Epub 2012 Mar 13.

PMID:
22469822
[PubMed - indexed for MEDLINE]
3.

6p subtelomere deletion with congenital glaucoma, severe mental retardation, and growth impairment.

Nakane T, Kousuke N, Sonoko H, Yuko K, Sato H, Kubota T, Sugita K.

Pediatr Int. 2013 Jun;55(3):376-81. doi: 10.1111/j.1442-200X.2012.03729.x. Review.

PMID:
23782370
[PubMed - indexed for MEDLINE]
4.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
[PubMed - indexed for MEDLINE]
Free Article
5.

Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features.

Caliskan MO, Karauzum SB, Mihci E, Tacoy S, Luleci G.

Genet Couns. 2005;16(2):129-38.

PMID:
16080292
[PubMed - indexed for MEDLINE]
6.

Delineation of the proximal 3q microdeletion syndrome.

Simovich MJ, Bland SD, Peiffer DA, Gunderson KL, Cheung SW, Yatsenko SA, Shinawi M.

Am J Med Genet A. 2008 Jul 1;146A(13):1729-35. doi: 10.1002/ajmg.a.32292. Review.

PMID:
18536049
[PubMed - indexed for MEDLINE]
7.

A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia.

Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS.

Am J Med Genet A. 2013 Jan;161A(1):198-202. doi: 10.1002/ajmg.a.35671. Epub 2012 Dec 13.

PMID:
23239541
[PubMed - indexed for MEDLINE]
8.

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

Neas KR, Smith JM, Chia N, Huseyin S, St Heaps L, Peters G, Sholler G, Tzioumi D, Sillence DO, Mowat D.

Am J Med Genet A. 2005 Feb 1;132(4):425-30. Review.

PMID:
15633179
[PubMed - indexed for MEDLINE]
9.

Partial monosomy 8q and partial trisomy 9q due to the maternal translocation t(8;9(q24.3;q34.1): a case report.

Tos T, Alp MY, Eker HK, Cebi AH, Ikbal M.

Genet Couns. 2014;25(1):35-9.

PMID:
24783653
[PubMed - indexed for MEDLINE]
10.

Array-CGH revealed one of the smallest 16q21q22.1 microdeletions in a female patient with psychomotor retardation.

Tsoutsou E, Tzetis M, Giannikou K, Syrmou A, Oikonomakis V, Kosma K, Kanioura A, Kanavakis E, Fryssira H.

Eur J Paediatr Neurol. 2013 May;17(3):316-20. doi: 10.1016/j.ejpn.2012.12.004. Epub 2013 Jan 24.

PMID:
23352671
[PubMed - indexed for MEDLINE]
11.

Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.

Chen CP, Lin SP, Su YN, Chern SR, Su JW, Lee CC, Wang W.

Genet Couns. 2012;23(4):447-55.

PMID:
23431743
[PubMed - indexed for MEDLINE]
12.

A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.

Debost-Legrand A, Eymard-Pierre E, Pebrel-Richard C, Gouas L, Goumy C, Giollant M, Ayed W, Tchirkov A, Francannet C, Vago P.

Am J Med Genet A. 2013 Jan;161A(1):162-5. doi: 10.1002/ajmg.a.35614. Epub 2012 Dec 13.

PMID:
23239647
[PubMed - indexed for MEDLINE]
13.

Fine mapping of breakpoints in two unrelated patients with rare overlapping interstitial deletions of 9q with mild dysmorphic features.

Kulharya AS, Flannery DB, Norris K, Lovell C, Levy B, Velagaleti GV.

Am J Med Genet A. 2008 Sep 1;146A(17):2234-41. doi: 10.1002/ajmg.a.32397.

PMID:
18666229
[PubMed - indexed for MEDLINE]
14.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.

PMID:
20182757
[PubMed - indexed for MEDLINE]
15.

Rare interstitial deletion 9q31.2 to q33.1 de novo: longitudinal study in a patient over a period of more than 20 years.

Gamerdinger U, Eggermann T, Schubert R, Schwanitz G, Kreiss-Nachtsheim M.

Am J Med Genet A. 2008 May 1;146A(9):1180-4. doi: 10.1002/ajmg.a.32122.

PMID:
18386807
[PubMed - indexed for MEDLINE]
16.

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.

Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F.

Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414.

PMID:
18629875
[PubMed - indexed for MEDLINE]
17.

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.

Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.

Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.

PMID:
19576304
[PubMed - indexed for MEDLINE]
18.
19.

Wisconsin syndrome in a patient with interstitial deletion of the long arm of chromosome 3: further delineation of the phenotype.

Ko WT, Lam WF, Lo FM, Chan WK, Lam TS.

Am J Med Genet A. 2003 Jul 30;120A(3):413-7.

PMID:
12838565
[PubMed - indexed for MEDLINE]
20.

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome.

Rauen KA, Cotter PD, Bitts SM, Cox VA, Golabi M.

Am J Med Genet. 2000 Jul 31;93(3):219-22.

PMID:
10925386
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk