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7 Article(s) on File
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Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
Tegay DH,
Chan KK,
Leung L,
Wang C,
Burkett S,
Stone G,
Stanyon R,
Toriello HV,
Hatchwell E

Clinical Genetics
  75 (3): 259-264; Mar 2009  
[Abstract]
[DOI] [Full Text]

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1)
Girirajan S,
Mendoza-Londono R,
Vlangos CN,
Dupuis L,
Nowak NJ,
Bunyan DJ,
Hatchwell E,
Elsea SH

American Journal of Medical Genetics Part A
  143A (9): 999-1008; May 2007  
[Abstract]
[Full Text]

Contiguous gene deletion involving L1CAM and AVPR2 causes X-linked hydrocephalus with nephrogenic diabetes insipidus
Tegay DH,
Lane AH,
Roohi J,
Hatchwell E

American Journal of Medical Genetics Part A
  143A (6): 594-598; Mar 2007  
[Abstract]
[DOI] [Full Text]

Genetic dissection using a novel whole genome tiling path BAC array reveals dramatic heterogeneity in Toriello-Carey syndrome, including a novel microdeletion syndrome at 22q12
Hatchwell E,
Tegay DH,
Wang C,
OBrien JE,
Allen W,
Tan T,
Prucka S,
Pettenati MJ,
Montagna C,
Nowak NJ,
Toriello HV

Cellular Oncology
  29 (2): 143-143; 2007  


Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
Harada N,
Hatchwell E,
Okamoto N,
Tsukahara M,
Kurosawa K,
Kawame H,
Kondoh T,
Ohashi H,
Tsukino R,
Kondoh Y,
Shimokawa O,
Ida T,
Nagai T,
Fukushima Y,
Yoshiura K,
Niikawa N,
Matsumoto N

Journal of Medical Genetics
  41 (2): 130-136; Feb 2004  
[Full Text]

Genome-wide analysis of genetic alterations in tumor cell lines by Ccap BAC microarray
He H,
Roschke A,
Yonescu R,
Hatchwell E,
Ried T,
Kirsch I

American Journal of Human Genetics
  73 (5): 254-254; Nov 2003  
[Full Text]

Joubert syndrome: a patient with a de novo t(2;22)(q13;q11.1)
Hatchwell E,
Tommerup N,
Kristoffersson U,
Stanyon R,
Kantarci S

American Journal of Human Genetics
  73 (5): 566-566; Nov 2003  
[Full Text]


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