- Potocki–
Lupski syndrome (PTLS), also
known as dup(17)p11.2p11.2 syndrome,
trisomy 17p11.2 or
duplication 17p11.2 syndrome, is a
contiguous gene syndrome...
-
James R.
Lupski (born
February 22, 1957) is the
Cullen Endowed Chair in
Molecular Genetics and
Professor in the
Department of
Pediatrics at
Baylor College...
- in
controlling circadian rhythm, such as CLOCK. The
groups led by
James Lupski (Baylor
College of Medicine) and
Sarah Elsea (Virginia
Commonwealth University)...
- with
liability to
pressure palsies, Smith–Magenis syndrome, and Potocki–
Lupski syndrome. The two
widely accepted methods for SD
detection are: 1. Whole-genome...
- Bibcode:1985Sci...229.1277B. doi:10.1126/science.3898363. PMID 3898363.
Hastings PJ,
Lupski JR,
Rosenberg SM, Ira G (August 2009). "Mechanisms of
change in gene copy...
-
Hereditary motor neuropathies Low copy
repeats Christina's
World Szigeti K,
Lupski JR (2009). "Charcot–Marie–Tooth disease".
European Journal of
Human Genetics...
- Lewis,
Richard A.; Tsai,
Sophia Y.; Gibbs,
Richard A.; Tsai, Ming-Jer;
Lupski,
James R.; Zoghbi, Huda Y.; Cremers,
Frans P.M.; de Vries, Bert B.A.; Schaaf...
- Smith–Magenis
syndrome when
individuals have
deletions of the gene and Potocki–
Lupski syndrome when
individuals have a duplication. It is
known as
retinoic acid...
- Boerkoel, CF; Potocki, L; Shaffer, LG; Devriendt, K; Nowaczyk, MJ; Inoue, K;
Lupski, JR (May 2002). "Genes in a
refined Smith-Magenis
syndrome critical deletion...
-
StatPearls Publishing. PMID 30969667.
Retrieved 2024-01-26.
Szigeti K,
Lupski JR (June 2009). "Charcot-Marie-Tooth disease".
European Journal of Human...
