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There are 10292 results for: content related to: Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations

  1. The early-life social environment and DNA methylation

    Clinical Genetics

    Volume 81, Issue 4, April 2012, Pages: 341–349, M Szyf

    Article first published online : 13 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01843.x

  2. Frequent occurrence of gastric cancer in Asian kindreds with Li–Fraumeni syndrome

    Clinical Genetics

    H. Ariffin, A.S.L. Chan, L. Oh, S. Abd-Ghafar, G.B. Ong, M. Mohamed, H. Razali, E. Juraida, S.H. Teo, M. Karsa, J. Shamsani and P. Hainaut

    Article first published online : 13 NOV 2014, DOI: 10.1111/cge.12525

  3. History of genetics through philately – deafness

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 417–420, SM Nikkel and AE Chudley

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600603.x

  4. Landmarks in genetics through philately: the tools used by dysmorphologists

    Clinical Genetics

    Volume 63, Issue 2, February 2003, Pages: 105–108, AE Chudley

    Article first published online : 10 MAR 2003, DOI: 10.1034/j.1399-0004.2003.00030.x

  5. Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred – a possible new syndrome

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 99–105, H Schmidt, G Rudolph, M Hergersberg, K Schneider, S Moradi and T Meitinger*

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590206.x

  6. Increased incidence of aberrant DNA methylation within diverse imprinted gene loci outside of IGF2/H19 in Silver–Russell syndrome

    Clinical Genetics

    Volume 81, Issue 4, April 2012, Pages: 366–377, K Kannenberg, C Urban and G Binder

    Article first published online : 8 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01844.x

  7. A logistic regression model for measuring gene–longevity associations

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 463–469, Q Tan, AI Yashin, G De Benedictis, F Cintolesi, G Rose, M Bonafe, C Franceschi, W Vach and JW Vaupel

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600610.x

  8. Advances in the detection of chromosomal aberrations using spectral karyotyping

    Clinical Genetics

    Volume 59, Issue 2, February 2001, Pages: 65–73, J Bayani and JA Squire

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590201.x

  9. A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21

    Clinical Genetics

    Volume 59, Issue 5, May 2001, Pages: 368–370, H Ilgin Ruhi, A Tükün, Hg Karabulut, P Bayazit and I Bökesoy

    Article first published online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.590514.x

  10. A molecular approach for identifying individuals with Li–Fraumeni syndrome who have a limited family history

    Clinical Genetics

    Volume 75, Issue 3, March 2009, Pages: 294–297, P Ang, IHK Lim, RYY Yong and ASG Lee

    Article first published online : 17 FEB 2009, DOI: 10.1111/j.1399-0004.2008.01133.x

  11. The Hunter–McAlpine syndrome results from duplication 5q35–qter

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 53–60, AGW Hunter, B Dupont, M McLaughlin, L Hinton, E Baker, L Adès, E Haan and CE Schwartz

    Article first published online : 22 DEC 2004, DOI: 10.1111/j.1399-0004.2005.00378.x

  12. Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization

    Clinical Genetics

    Volume 63, Issue 5, May 2003, Pages: 358–367, HHQ Heng, CJ Ye, F Yang, S Ebrahim, G Liu, SW Bremer, CM Thomas, J Ye, TJ Chen, C Tuck-Muller, JW Yu, SA Krawetz and A Johnson

    Article first published online : 7 MAY 2003, DOI: 10.1034/j.1399-0004.2003.00072.x

  13. Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation

    Clinical Genetics

    Volume 62, Issue 2, August 2002, Pages: 135–146, M Wehner, H Rueffert, F Koenig, J Neuhaus and D Olthoff

    Article first published online : 6 SEP 2002, DOI: 10.1034/j.1399-0004.2002.620206.x

  14. Stüve–Wiedemann syndrome and related bent bone dysplasias

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 12–21, N A Akawi, B R Ali and L Al-Gazali

    Article first published online : 21 FEB 2012, DOI: 10.1111/j.1399-0004.2012.01852.x

  15. Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

    Clinical Genetics

    Volume 82, Issue 2, August 2012, Pages: 121–130, M Klaassens, E Reinstein, Y Hilhorst-Hofstee, JJP Schrander, F Malfait, H Staal, LC ten Have, J Blaauw, HCJ Roggeveen, D Krakow, A De Paepe, MAM van Steensel, G Pals, JM Graham and CTRM Schrander-Stumpel

    Article first published online : 24 AUG 2011, DOI: 10.1111/j.1399-0004.2011.01758.x

  16. 40 years of the annual ‘Bar Harbor Course’ (1960–1999): a pictorial history

    Clinical Genetics

    Volume 55, Issue 6, June 1999, Pages: 398–415, Victor A McKusick, Juergen Naggert, Patsy Nishina and David Valle

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.550603.x

  17. Identification and characterization of -3c–g acceptor splice site mutation in human α- l-iduronidase associated with mucopolysaccharidosis type IH/S

    Clinical Genetics

    Volume 57, Issue 2, February 2000, Pages: 131–136, Yn Teng, Tr Wang, Wl Hwu, Sp Lin and Gj Lee-Chen

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.2000.570207.x

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

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 421–430, FZ Boyar, MM Whitney, AC Lossie, BA Gray, KL Keller, HJ Stalker, RT Zori, G Geffken, J Mutch, PJ Edge, KS Voeller, CA Williams and DJ Driscoll

    Article first published online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600604.x

  19. Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis

    Clinical Genetics

    Volume 75, Issue 4, April 2009, Pages: 326–333, RE Stevenson, RC Rogers, JC Chandler, MWL Gauderer and AGW Hunter

    Article first published online : 15 APR 2009, DOI: 10.1111/j.1399-0004.2008.01142.x

  20. Genetic implications and health consequences following the Chernobyl nuclear accident

    Clinical Genetics

    Volume 77, Issue 3, March 2010, Pages: 221–226, M Kozenko and AE Chudley

    Article first published online : 20 JAN 2010, DOI: 10.1111/j.1399-0004.2009.01364.x