Herbert A Lubs
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Explore the profile of Herbert A Lubs including associated specialties, affiliations and a list of published articles.
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12
Citations
687
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Recent Articles
1.
Neri G, Schwartz C, Lubs H, Stevenson R
Am J Med Genet A
. 2018 Apr;
176(6):1375-1388.
PMID: 29696803
The X-chromosome comprises only about 5% of the human genome but accounts for about 15% of the genes currently known to be associated with intellectual disability. The early progress in...
2.
Lubs H, Stevenson R, Schwartz C
Am J Hum Genet
. 2012 Apr;
90(4):579-90.
PMID: 22482801
X-Linked intellectual disability (XLID) accounts for 5%-10% of intellectual disability in males. Over 150 syndromes, the most common of which is the fragile X syndrome, have been described. A large...
3.
Schwartz C, Tarpey P, Lubs H, Verloes A, May M, Risheg H, et al.
J Med Genet
. 2007 Mar;
44(7):472-7.
PMID: 17369503
A novel missense mutation in the mediator of RNA polymerase II transcription subunit 12 (MED12) gene has been found in the original family with Lujan syndrome and in a second...
4.
Schwartz C, May M, Carpenter N, Rogers R, Martin J, Bialer M, et al.
Am J Hum Genet
. 2005 May;
77(1):41-53.
PMID: 15889350
Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in...
5.
Ramser J, Abidi F, Burckle C, Lenski C, Toriello H, Wen G, et al.
Hum Mol Genet
. 2005 Mar;
14(8):1019-27.
PMID: 15746149
The renin-angiotensin system (RAS) is essential for blood pressure control and water-electrolyte balance. Until the discovery of the renin receptor, renin was believed to be mainly a circulating enzyme with...
6.
Abidi F, Cardoso C, Lossi A, Lowry R, Depetris D, Mattei M, et al.
Eur J Hum Genet
. 2004 Oct;
13(2):176-83.
PMID: 15508018
The Chudley-Lowry syndrome (ChLS, MIM 309490) is an X-linked recessive condition characterized by moderate to severe mental retardation, short stature, mild obesity, hypogonadism, and distinctive facial features characterized by depressed...
7.
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy R, et al.
Am J Hum Genet
. 2004 Mar;
74(4):777-80.
PMID: 15024694
No abstract available.
8.
Cason A, Ikeguchi Y, Skinner C, Wood T, Holden K, Lubs H, et al.
Eur J Hum Genet
. 2003 Sep;
11(12):937-44.
PMID: 14508504
Polyamines (putrescine, spermidine, spermine) are ubiquitous, simple molecules that interact with a variety of other molecules in the cell, including nucleic acids, phospholipids and proteins. Various studies indicate that polyamines...
9.
Stocco dos Santos R, Castro N, Lillia Holmes A, Becak W, Tackels-Horne D, Lindsey C, et al.
Am J Med Genet A
. 2003 Apr;
118A(3):255-9.
PMID: 12673656
Mental retardation (MR) affects an estimated 2-3% of the population. A considerable fraction of mental retardation is due to X-linked genes. Of these genes, about 136 are responsible for syndromic...
10.
Castro N, Stocco dos Santos R, Nelson R, Becak W, Hane B, Lindsey C, et al.
Am J Med Genet A
. 2003 Feb;
118A(1):49-51.
PMID: 12605440
This report describes a family with mental retardation in two brothers. The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse...