S S Brooks
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Explore the profile of S S Brooks including associated specialties, affiliations and a list of published articles.
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17
Citations
171
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Recent Articles
1.
Berliner J, Shapiro F, Nolin S, Houck Jr G, Ding X, Dobkin C, et al.
J Genet Couns
. 2013 Nov;
3(3):233-44.
PMID: 24234009
Molecular analysis of the fragile X (FMR-1) gene identifies female fragile X carriers, but appropriate genetic counseling can only be provided if the limitations of the testing methods are understood....
2.
Ashkinadze E, Rosen T, Brooks S, Katsanis N, Davis E
Clin Genet
. 2012 Sep;
83(6):553-9.
PMID: 22998390
Bardet-Biedl syndrome (BBS) is a rare pediatric ciliopathy characterized by marked clinical variability and extensive genetic heterogeneity. Typical diagnosis of BBS is secured at a median of 9 years of...
3.
Puvabanditsin S, Garrow E, Lambert G, Botti C, Gowda S, Kathiravan S, et al.
Genet Couns
. 2011 Oct;
22(3):263-72.
PMID: 22029167
We report on a preterm neonate with a deletion of the distal long arm of chromosome 13q32.1 and partial trisomy of the short arm of chromosome 10p12.33. The patient has...
4.
Junaid M, Brooks S, Pullarkat R
Eur J Paediatr Neurol
. 2001 Oct;
5 Suppl A:63-8.
PMID: 11589010
The classic late infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) is a fatal neurodegenerative disorder that results from mutations in a gene encoding a lysosomal proteinase, known as CLN2 protease (CLN2p)...
5.
Combes A, McTiernan C, Brooks S, Feldman A
J Card Fail
. 2001 Jun;
7(2):165-75.
PMID: 11420769
Background: Proinflammatory cytokines play an important role in chronic cardiac diseases. Methods And Results: Neonatal rat cardiomyocytes were exposed to interleukin (IL)-1beta (2 ng/mL) for 4 days. We assessed contractility...
6.
7.
Zhang Z, Butler J, Levin S, Wisniewski K, Brooks S, Mukherjee A
Nat Med
. 2001 Apr;
7(4):478-84.
PMID: 11283676
Neuronal ceroid lipofuscinoses (NCLs) are the most common hereditary neurodegenerative diseases of childhood. The infantile form, INCL, is caused by lysosomal palmitoyl-protein thioesterase (PPT) deficiency, which impairs the cleavage of...
8.
Becker J, Vlach J, Raben N, Nagaraju K, Adams E, Hermans M, et al.
Am J Hum Genet
. 1998 Jun;
62(4):991-4.
PMID: 9529346
No abstract available.
9.
Wisniewski K, Zhong N, Kida E, Kaczmarski W, Kaczmarski A, Connell F, et al.
Folia Neuropathol
. 1997 Jan;
35(2):73-9.
PMID: 9377079
We have collected 122 late-infantile neuronal ceroid lipofuscinosis (LINCL, CLN2) and 191 juvenile NCL (JNCL, CLN3) cases, diagnosed on the basis of age-at-onset, clinical symptomatology, and pathological findings and representing...
10.
Giampietro P, Haas B, Lipper E, Gutman A, Zellers N, Latrenta G, et al.
Am J Med Genet
. 1996 May;
63(2):396-400.
PMID: 8725793
We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb....