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Items: 1 to 20 of 117

1.

Common genetic and epigenetic syndromes.

Adams DJ, Clark DA.

Pediatr Clin North Am. 2015 Apr;62(2):411-26. doi: 10.1016/j.pcl.2014.11.005. Epub 2015 Jan 22. Review.

PMID:
25836705
2.

Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM.

Am J Obstet Gynecol. 2017 Dec;217(6):691.e1-691.e6. doi: 10.1016/j.ajog.2017.10.005. Epub 2017 Oct 13.

3.

[Contiguous gene syndromes].

Kishino T, Niikawa N.

Ryoikibetsu Shokogun Shirizu. 2000;(30 Pt 5):118-22. Review. Japanese. No abstract available.

PMID:
11057165
4.

Prader-Willi and Angelman syndromes. Disorders of genomic imprinting.

Cassidy SB, Schwartz S.

Medicine (Baltimore). 1998 Mar;77(2):140-51. Review.

6.

An Update on Common Chromosome Microdeletion and Microduplication Syndromes.

Goldenberg P.

Pediatr Ann. 2018 May 1;47(5):e198-e203. doi: 10.3928/19382359-20180419-01. Review.

PMID:
29750287
7.

[Genetic basis of Prader-Willi and Angelman syndromes: implications for the biologic diagnosis].

Dupont JM, Cuisset L.

Arch Pediatr. 1998 Apr;5(4):418-24. Review. French.

PMID:
9759164
8.

Implementation of Fluorescent in situ hybridization (FISH) as a method for detecting microdeletion syndromes - our first experiences.

Sukarova-Angelovska E, Piperkova K, Sredovska A, Ilieva G, Kocova M.

Prilozi. 2007 Dec;28(2):87-98.

PMID:
18356781
9.

[Molecular diagnosis of Prader-Willi and Angelman syndromes: methylation, cytogenetics and FISH analysis].

Santa María L, Curotto B, Cortés F, Rojas C, Alliende MA.

Rev Med Chil. 2001 Apr;129(4):367-74. Spanish.

PMID:
11413988
10.

Use of FISH technique in the diagnosis of chromosomal syndromes.

Iqbal MA, Ulmer C, Sakati N.

East Mediterr Health J. 1999 Nov;5(6):1218-24.

PMID:
11924115
11.

[Epigenetic modification of the genetic material. Genomic imprinting and its significance for disease in human beings].

Brøndum-Nielsen K, Pedersen ML.

Ugeskr Laeger. 2001 Jun 4;163(23):3218-22. Review. Danish.

PMID:
11421188
12.

Prader-Willi and Angelman syndromes: update on genetic mechanisms and diagnostic complexities.

Khan NL, Wood NW.

Curr Opin Neurol. 1999 Apr;12(2):149-54. Review.

PMID:
10226746
13.

Human imprinting syndromes.

Lim DH, Maher ER.

Epigenomics. 2009 Dec;1(2):347-69. doi: 10.2217/epi.09.24. Review.

PMID:
22122706
14.

Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution.

Vora NL, OʼBrien BM.

Obstet Gynecol. 2014 May;123(5):1097-9. doi: 10.1097/AOG.0000000000000237.

PMID:
24785862
15.

A review of known imprinting syndromes and their association with assisted reproduction technologies.

Amor DJ, Halliday J.

Hum Reprod. 2008 Dec;23(12):2826-34. doi: 10.1093/humrep/den310. Epub 2008 Aug 14. Review.

PMID:
18703582
16.

Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population.

Loghmani Khouzani H, Kariminejad A, Zamani G, Ghalandary M, Bozorgmehr B, Amirsalari S, Mojahedi F, Tonekaboni SH, Kariminejad R, Najmabadi H.

Arch Iran Med. 2014 Jul;17(7):471-4. doi: 0141707/AIM.004.

17.

Molecular classes in 209 patients with Prader-Willi or Angelman syndromes: lessons for genetic counseling.

Faundes V, María LS, Aliaga S, Curotto B, Pugin A, Alliende MA.

Am J Med Genet A. 2015 Jan;167A(1):261-3. doi: 10.1002/ajmg.a.36801. Epub 2014 Oct 6. No abstract available.

PMID:
25287901
18.
19.

Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.

Ranganath P, Agarwal M, Phadke SR.

Am J Med Genet A. 2011 Nov;155A(11):2788-90. doi: 10.1002/ajmg.a.34234. Epub 2011 Sep 30.

PMID:
21964995
20.

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.

Thomas NS, Durkie M, Potts G, Sandford R, Van Zyl B, Youings S, Dennis NR, Jacobs PA.

Eur J Hum Genet. 2006 Jul;14(7):831-7. Epub 2006 Apr 12.

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