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Items: 1 to 20 of 34

1.

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ.

Am J Med Genet A. 2010 Feb;152A(2):504-11. doi: 10.1002/ajmg.a.33226.

PMID:
20101692
2.

Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq.

Thauvin-Robinet C, Faivre L, Cusin V, Khau Van Kien P, Callier P, Parker KL, Fellous M, Borgnon J, Gounot E, Huet F, Sapin E, Mugneret F.

Am J Med Genet A. 2004 Apr 30;126A(3):303-7. Review.

PMID:
15054847
3.

OEIS complex with del(3)(q12.2q13.2).

Kosaki R, Fukuhara Y, Kosuga M, Okuyama T, Kawashima N, Honna T, Ueoka K, Kosaki K.

Am J Med Genet A. 2005 Jun 1;135(2):224-6. Review. No abstract available.

PMID:
15887303
4.
5.

Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients.

Lin HJ, Ndiforchu F, Patell S.

Am J Med Genet. 1993 Mar 15;45(6):761-3. Review.

PMID:
8456857
6.

Prenatal ascertainment of OEIS complex/cloacal exstrophy - 15 new cases and literature review.

Keppler-Noreuil K, Gorton S, Foo F, Yankowitz J, Keegan C.

Am J Med Genet A. 2007 Sep 15;143A(18):2122-8. Review.

PMID:
17702047
7.
8.

Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research.

Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC.

Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):333-43. doi: 10.1002/ajmg.c.30317. Epub 2011 Oct 14. Review.

PMID:
22002951
9.

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
10.
11.

Chromosome 18q-syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision.

Brandigi E, Molinaro F, Bulotta AL, Angotti R, Pavone M, Messina M.

Ital J Pediatr. 2013 Jan 23;39:6. doi: 10.1186/1824-7288-39-6. Review.

12.

Pseudoexstrophy of the bladder: case report and literature review.

Swana HS, Gallagher PG, Weiss RM.

J Pediatr Surg. 1997 Oct;32(10):1480-1. Review.

PMID:
9349775
13.

Monosomy 1p36.31-33-->pter due to a paternal reciprocal translocation: prognostic significance of FISH analysis.

Blennow E, Bui TH, Wallin A, Kogner P.

Am J Med Genet. 1996 Oct 2;65(1):60-7. Review.

PMID:
8914743
14.

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
15.

Fetal abdominal wall defects.

Prefumo F, Izzi C.

Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):391-402. doi: 10.1016/j.bpobgyn.2013.10.003. Epub 2013 Dec 3. Review.

PMID:
24342556
16.

OEIS complex with glomerulocystic kidney disease: a case report.

Hong R, Lim SC, Jang JW, Suh CH, Jeon HJ, Lee MJ, Kim YS.

Pediatr Dev Pathol. 2007 Mar-Apr;10(2):121-4. Review.

PMID:
17378687
17.

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature.

Faivre L, Morichon-Delvallez N, Viot G, Martinovic J, Pinson MP, Aubry JP, Raclin V, Edery P, Dumez Y, Munnich A, Vekemans M.

Prenat Diagn. 1999 Jan;19(1):49-53. Review.

PMID:
10073907
18.

A report of three patients with an interstitial deletion of chromosome 15q24.

Cushman LJ, Torres-Martinez W, Cherry AM, Manning MA, Abdul-Rahman O, Anderson CE, Punnett HH, Thurston VC, Sweeney D, Vance GH.

Am J Med Genet A. 2005 Aug 15;137(1):65-71. Review.

PMID:
16007617
19.

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
20.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK.

J Med Genet. 1999 Sep;36(9):657-63. Review.

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