1 to 10 of 16 literature results

• Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

  We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disor…

  Authors: Tony Roscioli, Simon T Cliffe, Donald B Bloch, Christopher G Bell, Glenda Mullan, Peter J Taylor, Maria Sarris, Joanne Wang, Jennifer A Donald, Edwin P Kirk,…

  Source: Nature genetics. 2006 Jun

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• Quantitative trait loci modifying cardiac atrial septal morphology and risk of patent foramen ovale in the mouse.

  Atrial septal defect (ASD) is a common congenital heart disease (CHD) occurring in 5 to 7 per 10,000 live births. Mutations in 5 human genes (NKX2.5, …

  Authors: Edwin P Kirk, Changbaig Hyun, Peter C Thomson, Donna Lai, M Leticia Castro, Christine Biben, Michael F Buckley, Ian C A Martin, Chris Moran, Richard P Harvey

  Source: Circulation research. 2006 Mar 17

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• Treatment by deception is bad medicine.

  Authors: Edwin P Kirk

  Source: Lancet. 2003 Aug 23

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• Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.

  The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. Mo…

  Authors: Edwin P Kirk, Margaret Sunde, Mauro W Costa, Scott A Rankin, Orit Wolstein, M Leticia Castro, Tanya L Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway,…

  Source: American journal of human genetics. 2007 Aug

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• Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

  OBJECTIVE: Tandem mass spectrometry is widely applied to routine newborn screening but there are no long-term studies of outcome. We studied the clini…

  Authors: Bridget Wilcken, Marion Haas, Pamela Joy, Veronica Wiley, Francis Bowling, Kevin Carpenter, John Christodoulou, David Cowley, Carolyn Ellaway, Janice Fletcher,…

  Source: Pediatrics. 2009 Aug

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• Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.

  We performed haplotype analysis using nine single nucleotide polymorphisms in the ornithine transcarbamylase gene to explore the ancestral origins of …

  Authors: Sanae Numata, Yoshiro Koda, Kenji Ihara, Tomo Sawada, Yoshiyuki Okano, Toshinobu Matsuura, Fumio Endo, Han-Wook Yoo, Jose A Arranz, Vicente Rubio,…

  Source: Journal of human genetics. 2010 Jan

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• Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

  OBJECTIVES: We sought to examine the importance of mutations in the cardiac transcription factor gene NKX2-5 in patients with an atrial septal defect …

  Authors: David A Elliott, Edwin P Kirk, Thomas Yeoh, Suchitra Chandar, Fiona McKenzie, Peter Taylor, Paul Grossfeld, Diane Fatkin, Owen Jones, Peter Hayes,…

  Source: Journal of the American College of Cardiology. 2003 Jun 4

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• Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.

  Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid alpha-glucosidase deficiency…

  Authors: Monique M P Hermans, Dik van Leenen, Marian A Kroos, Clare E Beesley, Ans T Van Der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P Kirk,…

  Source: Human mutation. 2004 Jan

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• Rapamycin treatment for a child with germline PTEN mutation.

  BACKGROUND: A 9-month-old boy with Proteus syndrome and a de novo germline mutation in the tumor suppressor PTEN was referred to a specialist centre f…

  Authors: Deborah J Marsh, Toby N Trahair, Janet L Martin, Wey Yeeng Chee, Jan Walker, Edwin P Kirk, Robert C Baxter, Glenn M Marshall

  Source: Nature clinical practice. Oncology. 2008 Jun

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• Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant.

  We report the second instance of a complex unbalanced rearrangement consisting of distal trisomy 6p and 20q due to the concurrent transposition of dis…

  Authors: Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Gregory B Peters, Edwin P Kirk, Dorothy Hung, Roberto Ciccone, Giulietta Gottardi, Orsetta Zuffardi

  Source: European journal of medical genetics. 2008 Mar-Apr

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