Deep Blue: Browsing Human Genetics, Department of by Title

Nestin-Cre mediated deletion of Pitx2 in the mouse This article is a US Government work and, as such, is in the public domain in the United States of America.

Sclafani, Anthony M.; Skidmore, Jennifer M.; Ramaprakash, Hemanth; Trumpp, Andreas; Gage, Philip J.; Martin, Donna M. (Wiley Subscription Services, Inc., A Wiley Company, 2006-07)

(2.6MB)

NF1-related locus on chromosome 15

Legius, Eric; Marchuk, Douglas A.; Hall, Bryan K.; Andersen, Lone B.; Wallace, Margaret R.; Collins, Francis S.; Glover, Thomas W. (Elsevier, 1992-08)

(431.7KB)

No association between DFNA6 and Pro250Arg mutation in FGFR3

Bespalova, Irina N.; Burmeister, Margit L.; Lesperance, Marci M. (John Wiley & Sons, Inc., 1999-10-15)

(39.8KB)

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations

Wiggins, Roger C.; Mucha, Bettina E.; Fuchshuber, Arno; Lichtenberger, Anne; Hildebrandt, Friedhelm; Ruf, Rainer G.; Schultheiss, Michael (Springer-Verlag; IPNA, 2004-12)

(155KB)

A novel VEGFR3 mutation causes Milroy disease How to cite this article: Butler MG, Dagenais SL, Rockson SG, Glover TW. 2007. A novel VEGFR3 mutation causes Milroy disease. Am J Med Genet Part A 143A:1212–1217.

Butler, Matthew Gregory; Dagenais, Susan L.; Rockson, Stanley G.; Glover, Thomas W. (Wiley Subscription Services, Inc., A Wiley Company, 2007-06-01)

(272.8KB)

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies How to cite this article: Jensen DR, Martin DM, Gebarski S, Sahoo T, Brundage EK, Chinault AC, Otto EA, Chaki M, Hildebrandt F, Cheung SW, Lesperance MM. 2009. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies. Am J Med Genet Part A 149A:396–402.

Jensen, Daniel R.; Martin, Donna M.; Gebarski, Stephen S.; Sahoo, Trilochan; Brundage, Ellen K.; Chinault, A. Craig; Otto, Edgar A.; Chaki, Moumita; Hildebrandt, Friedhelm; Cheung, Sau Wai; Lesperance, Marci M. (Wiley Subscription Services, Inc., A Wiley Company, 2009-03)

(283.2KB)

Novel cystatin B mutation and diagnostic PCR assay in an unverricht-lundborg progressive myoclonus epilepsy patient

Bespalova, Irina N.; Adkins, Steve; Pranzatelli, Michael R.; Burmeister, Margit L. (Wiley Subscription Services, Inc., A Wiley Company, 1997-09-19)

(198.4KB)

Novel inhibition of carbonic anhydrase isozymes I, II and III by carbamoyl phosphate

Carter, Nicholas D.; Chegwidden, W. Richard; Hewett-Emmett, David; Jeffery, S.; Shiels, A.; Tashian, Richard E. (Elsevier, 1984-01-09)

(431.3KB)

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Hiriyanna, Kelaginamane T.; Bingham, Eve L.; Yashar, Beverly M.; Ayyagari, Radha; Fishman, Gerald A.; Small, Kent W.; Weinberg, David V.; Weleber, Richard G.; Lewis, Richard A.; Andreasson, Sten; Richards, Julia E.; Sieving, Paul A. (John Wiley & Sons, Inc., 1999-11)

(192.4KB)

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

Keegan, Catherine E.; Hutz, Janna E.; Krause, Andrea S.; Koehler, Katrin; Metherell, Louise A.; Boikos, Sosipatros; Stergiopoulos, Sotirios; Clark, Adrian J. L.; Stratakis, Constantine A.; Huebner, Angela; Hammer, Gary D. (Blackwell Publishing Ltd, 2007-08)

(117.2KB)

NPHS2 mutation associated with recurrence of proteinuria after transplantation

August, Christian; Haffner, Dieter; Hildebrandt, Friedhelm; Querfeld, Uwe; Billing, Heiko; Müller, Dominik; Ruf, Rainer G.; Lichtenberger, Anne (Springer-Verlag; IPNA, 2004-05)

(210KB)

The nucleotide sequence and derived amino acid sequence of cDNA coding for mouse carbonic anhydrase II

Curtis, Peter J.; Withers, Elizabeth; Demuth, Donald; Watt, Rosemary; Venta, Patrick J.; Tashian, Richard E. (Elsevier, 1983-11)

(1.1MB)

Nucleotide sequence and expression of the mouse corticotropin-releasing hormone gene

Seasholtz, Audrey F.; Bourbonais, Francis J.; Harnden, Catherine E.; Camper, Sally A. (Elsevier, 1991-06)

(5.7MB)

Of fingers, toes and penises

Kondo, T.; Zakany, J.; Innis, Jeffrey W.; Duboule, D. (Macmillan Magazines Ltd., 1997-11-06)

(216.8KB)

Organization of the Mouse and Human Carbonic Anhydrase II Genes a

Venta, Patrick J.; Montgomery, Jeffry C.; Wiebauer, Karin; Hewett-Emmett, David; Tashian, Richard E. (Blackwell Publishing Ltd, 1984-06)

(890.2KB)

Origins and Molecular Evolution of the Carbonic Anhydrase Isozymes a

Hewett-Emmett, David; Hopkins, Penelope J.; Tashian, Richard E.; Czelusniak, John (Blackwell Publishing Ltd, 1984-06)

(1MB)

Paradoxical effects of glucocorticoids on regulation of plasminogen activator activity : Mediation by glucocorticoid receptors

Barouski-Miller, Patricia A.; Gelehrter, Thomas D. (Elsevier, 1984-02)

(613.5KB)

The parameters for quantitative analysis of mutation rates with cultured mammalian somatic cells

Fu, Jiliang; Li, I-Chian; Chu, Ernest H. Y. (Elsevier, 1982-11)

(352.5KB)

Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA

Meilinger, Karen L.; Kelch, Robert P.; Wall, Patrick M.; Speert, David P.; Chu, Ernest H. Y.; Steffensen, Dale M. (Springer-Verlag, 1977-01)

(525KB)

A path analysis of the causal relationships between red cell glycolytic intermediates, ADP and ATP in sickle cell anemia

Moll, Patricia Peyser; Sing, Charles F.; Brewer, George J. (Elsevier, 1977-12)

(882.7KB)

Pediatric duodenal cancer and biallelic mismatch repair gene mutations

Roy, Sumita; Raskin, Leon; Raymond, Victoria M.; Thibodeau, Stephen N.; Mody, Rajen J.; Gruber, Stephen B. (Wiley Subscription Services, Inc., A Wiley Company, 2009-07-15)

(141.2KB)

A phage P22 gene controlling integration of prophage

Smith, Hamilton O.; Levine, Myron (Elsevier, 1967-02)

(876.6KB)

Phenotypic heterogeneity in cystic fibrosis

Sing, Charles F.; Risser, David R.; Howatt, William F.; Erickson, Robert P. (Wiley Subscription Services, Inc., A Wiley Company, 1982-10)

(915KB)

Phosphoenolpyruvate Carboxykinase (GTP): Characterization of the Human PCK1 Gene and Localization Distal to MODY on Chromosome 20

Ting, Chao-Nan; Burgess, Daniel L.; Chamberlain, Jeffrey S.; Keith, Tim P.; Falls, Kathleen; Meisler, Miriam H. (Elsevier, 1993-06)

(565.7KB)

The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutation

Camper, Sally A.; Saunders, Thomas L.; Katz, Ronald W.; Reeves, Roger H. (Elsevier, 1990-11)

(1.1MB)