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Items: 15

1.

A new case of proximal monosomy 1p36, extending the phenotype.

Rudnik-Schöneborn S, Zerres K, Häusler M, Lott A, Krings T, Schüler HM.

Am J Med Genet A. 2008 Aug 1;146A(15):2018-22. doi: 10.1002/ajmg.a.32405. No abstract available.

PMID:
18627049
2.

Monosomy 1p36 deletion syndrome.

Gajecka M, Mackay KL, Shaffer LG.

Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56. Review.

PMID:
17918734
3.

Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature.

Campeau PM, Ah Mew N, Cartier L, Mackay KL, Shaffer LG, Der Kaloustian VM, Thomas MA.

Am J Med Genet A. 2008 Dec 1;146A(23):3062-9. doi: 10.1002/ajmg.a.32563. Review.

PMID:
19006213
4.

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
5.

Terminal deletion of the long arm of chromosome 10.

Scigliano S, Grégoire MJ, Schmitt M, Jonveaux PH, LeHeup B.

Clin Genet. 2004 Apr;65(4):294-8. Review.

PMID:
15025722
6.

Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review.

Puvabanditsin S, Garrow E, Brandsma E, Savla J, Kunjumon B, Gadi I.

Am J Med Genet A. 2009 Aug;149A(8):1782-5. doi: 10.1002/ajmg.a.32972. Review.

PMID:
19610110
7.

[Partial deletion 10qter. A new case].

Vanlieferinghen P, Dechelotte P, Charbonné F.

Ann Genet. 1987;30(2):118-21. Review. French.

PMID:
3314664
8.

Kidney abnormalities in persons with monosomy 15q26.

Lurie IW.

Am J Med Genet A. 2008 Jul 1;146A(13):1761-4. doi: 10.1002/ajmg.a.32333. Review. No abstract available.

PMID:
18512227
9.

Diaphragmatic hernia in 18p- syndrome.

Strenge S, Froster UG.

Am J Med Genet A. 2004 Feb 15;125A(1):97-9. Review. No abstract available.

PMID:
14755475
10.

Revisit on a distinctive chromosome 1p36 deletion syndrome: report of one case and review of the English literature.

Lee ML, Tsao LY, Wang BT, Lee MH, Chiu IS.

Int J Cardiol. 2004 Sep;96(3):477-80. Review. No abstract available.

PMID:
15301904
11.

Novel airway findings in a patient with 1p36 deletion syndrome.

Ferril GR, Barham HP, Prager JD.

Int J Pediatr Otorhinolaryngol. 2014 Jan;78(1):157-8. doi: 10.1016/j.ijporl.2013.08.041. Epub 2013 Nov 14. Review.

PMID:
24290305
12.

Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome.

Tuschl K, Fritz B, Herle M, Fonatsch C, Bodamer OA.

Am J Med Genet A. 2007 Sep 1;143A(17):2065-9. Review. No abstract available.

PMID:
17676599
13.

Monosomy 22 mosaicism.

Sabui TK, Chakraborty AK.

Indian Pediatr. 1997 Apr;34(4):348-52. Review. No abstract available.

PMID:
9332105
14.

Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.

Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.

Am J Med Genet A. 2009 Mar;149A(3):417-26. doi: 10.1002/ajmg.a.32693. Review.

PMID:
19215041
15.

[Monosomy 13q syndrome].

Tsukino R, Sasaki M.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):329-31. Review. Japanese. No abstract available.

PMID:
11057249
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