Ellis‐van Creveld syndrome in a patient from Tanzania

Authors: Dekker, Marieke C. J., Sadiq, Adnan M., Jusabani, Mubashir A., Mdavire, Vivian J., Baas, Frank, Morton, David H., Hamel, Ben C. J.

Source: American journal of medical genetics.Part A. 179(10):2034-2038

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088866217.0x000001&indx=1&recIds=ETOCvdc_100088866217.0x000001

Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency.

Authors: Laumonnier, Frédéric, Ronce, Nathalie, Hamel, Ben C. J.

Source: American Journal of Human Genetics; December 2002, Vol. 71 Issue 6, p1450-1455, 6p

p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors: van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike

Source: American Journal of Human Genetics; September 2001, Vol. 69 Issue 3, p481-492, 12p

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Authors: Celli, Jacopo, Duijf, Pascal, Hamel, Ben C. J.

Source: Cell; October 15 1999, Vol. 99 Issue 2, p143-153, 11p

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Authors: Smeets, Dominique F. C. M., Hamel, Ben C. J., Nelen, Marcel R.

Source: New England Journal of Medicine; March 19 1992, Vol. 326, p807-811, 5p

The clinical spectrum of complete FBN1 allele deletions.

Authors: Hilhorst-Hofstee, Yvonne¹ hilhorst@lumc.nl, Hamel, Ben C. J.², Verheij, Joke B. G. M.³, Rijlaarsdam, Marry E. B.⁴, Mancini, Grazia M. S.⁵, Cobben, Jan M.⁶, Giroth, Cindy¹, Ruivenkamp, Claudia A. L.¹, Hansson, Kerstin B. M.¹, Timmermans, Janneke⁷, Moll, Henriette A.⁸, Breuning, Martijn H.¹, Pals, Gerard⁹

Source: European Journal of Human Genetics. Mar2011, Vol. 19 Issue 3, p247-252. 6p. 2 Diagrams, 2 Charts, 1 Graph.

Subject Terms: *GENE frequency, *GENETIC mutation, *PHENOTYPES, *MARFAN syndrome, *MITRAL valve prolapse, *PATIENTS

X-linked mental retardation.

Authors: Ropers, H. -Hilger¹ ropers@molgen.mpg.de, Hamel, Ben C. J.²

Source: Nature Reviews Genetics. Jan2005, Vol. 6 Issue 1, p46-57. 12p. 1 Diagram, 2 Charts, 1 Graph.

Subject Terms: *INTELLECTUAL disabilities, *GENETICS, *ETIOLOGY of diseases, *X chromosome, *DEVELOPMENTAL disabilities

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

Authors: Hamel, Ben C. J., Smits, Arie P. T., de Graaff, Esther

Source: American Journal of Human Genetics; November 1994, Vol. 55, p923-931, 9p

Respiratory Failure due to Severe Obesity and Kyphoscoliosis in a 24-Year-Old Male with Molecularly Confirmed Prader-Willi Syndrome in Tertiary Hospital in Northern Tanzania.

Authors: Shao, Elichilia R., Kiyegi, Lucas F., Mwasamwaja, Amos O., Kilonzo, Kajiru, Hamel, Ben C. J.

Source: Case Reports in Genetics; 4/9/2017, p1-4, 4p

Subject Terms: SPINE abnormalities, PRADER-Willi syndrome, DISEASES in adults, OBESITY in men

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