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Items: 17


CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1.

Hemmat M, Rumple MJ, Mahon LW, Morrow M, Zach T, Anguiano A, Elnaggar MM, Wang BT, Boyar FZ.

Mol Cytogenet. 2017 Sep 5;10:33. doi: 10.1186/s13039-017-0334-4. eCollection 2017.


Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay.

Hemmat M, Yang X, Chan P, McGough RA, Ross L, Mahon LW, Anguiano AL, Boris WT, Elnaggar MM, Wang JC, Strom CM, Boyar FZ.

Mol Cytogenet. 2014 Aug 29;7:50. doi: 10.1186/1755-8166-7-50. eCollection 2014.


Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results.

Hemmat M, Chen W, Anguiano A, Naggar ME, Racke FK, Jones D, Wang Y, Strom CM, Chang K, Boyar FZ.

Mol Cytogenet. 2014 May 27;7:35. doi: 10.1186/1755-8166-7-35. eCollection 2014.


Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.

Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T.

Eur J Hum Genet. 2015 May;23(5):663-71. doi: 10.1038/ejhg.2014.153. Epub 2014 Aug 13.


Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory.

Wang BT, Chong TP, Boyar FZ, Kopita KA, Ross LP, El-Naggar MM, Sahoo T, Wang JC, Hemmat M, Haddadin MH, Owen R, Anguiano AL.

Mol Cytogenet. 2014 May 22;7:33. doi: 10.1186/1755-8166-7-33. eCollection 2014.


Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.

Hemmat M, Rumple MJ, Mahon LW, Strom CM, Anguiano A, Talai M, Nguyen B, Boyar FZ.

Mol Cytogenet. 2014 Apr 16;7:27. doi: 10.1186/1755-8166-7-27. eCollection 2014.


Genotype-phenotype analysis of recombinant chromosome 4 syndrome: an array-CGH study and literature review.

Hemmat M, Hemmat O, Anguiano A, Boyar FZ, El Naggar M, Wang JC, Wang BT, Sahoo T, Owen R, Haddadin M.

Mol Cytogenet. 2013 May 2;6(1):17. doi: 10.1186/1755-8166-6-17.


Neocentric X-chromosome in a girl with Turner-like syndrome.

Hemmat M, Wang BT, Warburton PE, Yang X, Boyar FZ, El Naggar M, Anguiano A.

Mol Cytogenet. 2012 Jun 9;5(1):29. doi: 10.1186/1755-8166-5-29.


Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology.

Hantash FM, Wang BT, Owen R, Ross LP, Mahon LW, Boyar FZ, Anguiano A, Strom CM.

J Pediatr Genet. 2012 Jun;1(2):115-24. doi: 10.3233/PGE-2012-019.


Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory.

Anguiano A, Wang BT, Wang SR, Boyar FZ, Mahon LW, El Naggar MM, Kohn PH, Haddadin MH, Sulcova V, Sbeiti AH, Ayad MS, White BJ, Strom CM.

Mol Cytogenet. 2012 Jan 16;5:3. doi: 10.1186/1755-8166-5-3.


Fluorescence in situ hybridization and K-ras analyses improve diagnostic yield of endoscopic ultrasound-guided fine-needle aspiration of solid pancreatic masses.

Reicher S, Boyar FZ, Albitar M, Sulcova V, Agersborg S, Nga V, Zhou Y, Li G, Venegas R, French SW, Chung DS, Stabile BE, Eysselein VE, Anguiano A.

Pancreas. 2011 Oct;40(7):1057-62. doi: 10.1097/MPA.0b013e3182200201.


Dynamic histone modifications mark sex chromosome inactivation and reactivation during mammalian spermatogenesis.

Khalil AM, Boyar FZ, Driscoll DJ.

Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16583-7. Epub 2004 Nov 9.


A family with a grand-maternally derived interstitial duplication of proximal 15q.

Boyar FZ, Whitney MM, Lossie AC, Gray BA, Keller KL, Stalker HJ, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ.

Clin Genet. 2001 Dec;60(6):421-30.


Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency.

Zori RT, Boyar FZ, Williams WN, Gray BA, Bent-Williams A, Stalker HJ, Rimer LA, Nackashi JA, Driscoll DJ, Rasmussen SA, Dixon-Wood V, Williams CA.

Am J Med Genet. 1998 Apr 28;77(1):8-11.


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