- 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)...
- 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...
- with
liability to
pressure palsies, Smith–Magenis syndrome, and Potocki–
Lupski syndrome. The two
widely accepted methods for SD
detection are: 1. Whole-genome...
- Lin, MD —
Cardiovascular surgeon James R.
Lupski, MD, PhD —
Molecular geneticist. Co-discoverer, Potocki-
Lupski syndrome Kenneth Mattox, MD —
Surgeon Elizabeth...
- Ehlers-Danlos
syndrome Pontocerebellar hypoplasia types 2E, 7, and 12 Potocki-
Lupski syndrome Prolidase deficiency Pyknodysostosis RAB23-related
Carpenter syndrome...
- 1534/genetics.111.134668. PMC 3276617. PMID 22345605. Hastings, P. J.;
Lupski,
James R.; Rosenberg,
Susan M.; Ira,
Grzegorz (August 2009). "Mechanisms...
-
StatPearls Publishing. PMID 30969667.
Retrieved 2024-01-26.
Szigeti K,
Lupski JR (June 2009). "Charcot-Marie-Tooth disease".
European Journal of Human...
