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Results: 1 to 20 of 208

1.

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects.

Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z.

Am J Med Genet A. 2011 Jan;155A(1):203-6. doi: 10.1002/ajmg.a.33766.

PMID:
21204233
[PubMed - indexed for MEDLINE]
2.

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]
3.

Two patients with atypical interstitial deletions of 8p23.1: mapping of phenotypical traits.

Páez MT, Yamamoto T, Hayashi K, Yasuda T, Harada N, Matsumoto N, Kurosawa K, Furutani Y, Asakawa S, Shimizu N, Matsuoka R.

Am J Med Genet A. 2008 May 1;146A(9):1158-65. doi: 10.1002/ajmg.a.32205.

PMID:
18393291
[PubMed - indexed for MEDLINE]
4.

Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome.

Wenger SL, Grossfeld PD, Siu BL, Coad JE, Keller FG, Hummel M.

Am J Med Genet A. 2006 Apr 1;140(7):704-8.

PMID:
16502431
[PubMed - indexed for MEDLINE]
5.

Delineation of a recognisable phenotype of interstitial deletion 3 (q22.3q25.1) in a case with previously unreported truncus arteriosus.

Rea G, McCullough S, McNerlan S, Craig B, Morrison PJ.

Eur J Med Genet. 2010 May-Jun;53(3):162-7. doi: 10.1016/j.ejmg.2010.02.008. Epub 2010 Mar 6.

PMID:
20215058
[PubMed - indexed for MEDLINE]
6.

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

Devriendt K, Matthijs G, Van Dael R, Gewillig M, Eyskens B, Hjalgrim H, Dolmer B, McGaughran J, Bröndum-Nielsen K, Marynen P, Fryns JP, Vermeesch JR.

Am J Hum Genet. 1999 Apr;64(4):1119-26.

PMID:
10090897
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Blepharophimosis-ptosis-epicanthus inversus syndrome plus: deletion 3q22.3q23 in a patient with characteristic facial features and with genital anomalies, spastic diplegia, and speech delay.

Zahanova S, Meaney B, Łabieniec B, Verdin H, De Baere E, Nowaczyk MJ.

Clin Dysmorphol. 2012 Jan;21(1):48-52. doi: 10.1097/MCD.0b013e32834977f1.

PMID:
21934608
[PubMed - indexed for MEDLINE]
8.

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]
9.

Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion.

Tzschach A, Krause-Plonka I, Menzel C, Knoblauch A, Toennies H, Hoeltzenbein M, Radke M, Ropers HH, Kalscheuer V.

Am J Med Genet A. 2006 May 15;140(10):1108-10.

PMID:
16619204
[PubMed - indexed for MEDLINE]
10.

A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.

Hiraki Y, Nishimura A, Hayashidani M, Terada Y, Nishimura G, Okamoto N, Nishina S, Tsurusaki Y, Doi H, Saitsu H, Miyake N, Matsumoto N.

Am J Med Genet A. 2011 Feb;155A(2):409-14. doi: 10.1002/ajmg.a.33818. Epub 2011 Jan 13.

PMID:
21271663
[PubMed - indexed for MEDLINE]
11.

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]
12.

An interstitial deletion of chromosome 7 at band q21: a case report and review.

Courtens W, Vermeulen S, Wuyts W, Messiaen L, Wauters J, Nuytinck L, Peeters N, Storm K, Speleman F, Nöthen MM.

Am J Med Genet A. 2005 Apr 1;134A(1):12-23. Review.

PMID:
15732063
[PubMed - indexed for MEDLINE]
13.

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3.

Garcia-Miñaur S, Ramsay J, Grace E, Minns RA, Myles LM, FitzPatrick DR.

Am J Med Genet A. 2005 Feb 1;132(4):402-10. Review.

PMID:
15742475
[PubMed - indexed for MEDLINE]
14.

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features.

Fabretto A, Santa Rocca M, Perrone MD, Skabar A, Pecile V, Gasparini P.

Am J Med Genet A. 2012 Apr;158A(4):882-7. doi: 10.1002/ajmg.a.35239. Epub 2012 Mar 9.

PMID:
22407795
[PubMed - indexed for MEDLINE]
15.

Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay.

Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A.

Am J Med Genet A. 2007 Jan 15;143(2):172-8.

PMID:
17163532
[PubMed - indexed for MEDLINE]
16.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.

Kuechler A, Buysse K, Clayton-Smith J, Le Caignec C, David A, Engels H, Kohlhase J, Mari F, Mortier G, Renieri A, Wieczorek D.

Am J Med Genet A. 2011 Aug;155A(8):1857-64. doi: 10.1002/ajmg.a.34072. Epub 2011 Jul 7.

PMID:
21739578
[PubMed - indexed for MEDLINE]
17.

Molecular characterization of a 14q deletion in a boy with features of Holt-Oram syndrome.

Le Meur N, Goldenberg A, Michel-Adde C, Drouin-Garraud V, Blaysat G, Marret S, Amara SA, Moirot H, Joly-Hélas G, Mace B, Kleinfinger P, Saugier-Veber P, Frébourg T, Rossi A.

Am J Med Genet A. 2005 May 1;134(4):439-42.

PMID:
15810003
[PubMed - indexed for MEDLINE]
18.

Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

de Ru MH, Gille JJ, Nieuwint AW, Bijlsma JB, van der Blij JF, van Hagen JM.

Am J Med Genet A. 2005 Aug 15;137(1):81-7. Review.

PMID:
16015581
[PubMed - indexed for MEDLINE]
19.

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]
20.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willatt L, Marra MA, Friedman JM.

J Med Genet. 2007 Sep;44(9):556-61. Epub 2007 Jun 1.

PMID:
17545556
[PubMed - indexed for MEDLINE]
Free PMC Article

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