 |
A
family with the Coffin Lowry syndrome revisited: localization of CLS to
Xp21-pter. Am J Med Genet 1988 May-Jun;30(1-2):509-21; Abstract |
 |
A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI
findings in a family with Coffin-Lowry syndrome. Am J Med Genet
2006 May 11; Abstract |
 |
A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome.
Eur J Pediatr 2002 Apr;161(4):179-87. Abstract |
 |
Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]:
overlap with Coffin-Lowry syndrome. Am J Med Genet 2000 Nov
13;95(2):93-8 Abstract |
 |
ATF4 Is a Substrate of RSK2 and
an Essential Regulator of Osteoblast Biology: Implication for Coffin-Lowry
syndrome Cell Vol. 117, 387-398, April 30, 2004 [PDF] Full Text |
 |
Brief clinical report: early recognition of the Coffin-Lowry syndrome.
Am J Med Genet 1981;8(2):215-20 Abstract |
 |
Cardiac involvement in Coffin-Lowry syndrome Acta Paediatr
1999 Apr;88(4):468-70. Abstract. |
 | Cardiomyopathy in Coffin-Lowry syndrome.
American Journal of Medical
Genetics Part A
Volume 128A, Issue 2 , Pages 176 - 178. Full Text |
 |
"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.
J Med Genet 1998 Feb;35(2):94-8 Abstract |
 |
Coffin-Lowry Syndrome European
Journal of Human Genetics (2010) 18, 627-633; doi:10.1038/ejhg.2009.189
Full Text |
 | Coffin-Lowry Syndrome: A 20-Year
Follow-Up and Review of Long-Term Outcomes American
Journal of Medical Genetics 111:345-355 (2002), [PDF]
Full Text |
 |
Coffin-Lowry syndrome: a multicenter study.
Clin Genet 1988
Oct;34(4):230-45 Abstract |
 |
Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition
in the ligamenta flava. Clin Orthop 1992 Feb;(275):144-51 Abstract |
 |
Coffin-Lowry syndrome: clinical and molecular features
Med Genet 2002; 39:705-713 [PDF] Full Text |
 | Coffin-Lowry syndrome
GeneReviews - Funded by the NIH - Developed at the University of Washington,
Seattle. July 16, 2002. |
 | Coffin-Lowry
syndrome and premature tooth loss: A case report. Dentistry for Children, March-April 2000, p148, 149,150.
Reprinted with
permission from the American Academy of Pediatric Dentistry, 211 E. Chicago
Avenue, Suite 700, Chicago, IL 60611-2663, phone 312-337-2169, fax
312-337-6329, email
aapdinfo@aapd.org
Web site:
http://www.aapd.org |
 |
Coffin-Lowry syndrome and schizophrenia: a family report.
J Ment Defic
Res 1987 Jun;31 ( Pt 2):199-207 Abstract |
 |
Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly.
J Laryngol Otol 1994 Feb;108(2):147-8 Abstract |
 |
Cognitive
impairment in Coffin–Lowry syndrome correlates with reduced RSK2 activation
Neurology 2001 56: 207-214. Abstract |
 |
Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement
of the genetic localization of the Coffin-Lowry syndrome gene. Genomics 1994 Aug;22(3):617-25
Abstract |
 |
Corpus callosum agenesis in Coffin-Lowry syndrome.
Genet Couns
1994;5(1):77-80 Abstract |
 |
Crossover analysis in a British family suggests that Coffin-Lowry syndrome
maps to a 3.4-cM interval in Xp22. Am J Med Genet 1995 Dec
4;59(4):512-6 Abstract |
 |
Delineation of the mechanisms of aberrant splicing caused by two unusual
intronic mutations in the RSK2 gene involved in Coffin–Lowry syndrome
Nucleic Acids Res. 2004; 32(3): 1214–1223. Published online 2004
February 18. doi: 10.1093/nar/gkh272. Full Text. |
 |
Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated
with clonazepam. Pediatr Neurol 1998 Aug;19(2):148-50 Abstract |
 |
Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early
diagnostic clue. Am J Med Genet 1984 Jun;18(2):195-9 Abstract
|
 |
Four novel RSK2
mutations in females with Coffin-Lowry syndrome. Eur J Med Genet. 2010
Jul 14 [Epub ahead of print] |
 |
Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing
Coffin–Lowry syndrome Clinical Genetics Volume 64 Issue 6
Page 491 - December 2003 doi:10.1046/j.1399-0004.2003.00166.x Abstract
|
 | Germline mosaicism in Coffin-Lowry syndrome.
Eur J Hum Genet 1998
Nov-Dec;6(6):578-82 [PDF] Full Text |
 |
Late-Onset
Sensorineural Hearing Loss in Coffin-Lowry Syndrome Otorhinolaryngol Relat Spec. 1998
Jul-Aug;60(4):224-6. Abstract |
 | Learning and Memory Paul
Lombroso, Rev Bras Pisquiatr 2004:26(3):207-10, original version accepted in
English. [PDF] Full Text |
 |
Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry
syndrome and lactic acidosis. Hum Mol Genet 1998 Mar;7(3):549-55
Abstract |
 |
Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic
heterogeneity and a high rate of de novo mutations. Am J Hum Genet
1998 Dec;63(6):1631-40 Abstract |
 |
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
Nature 1996 Dec 12;384(6609):567-70 Abstract |
 |
New
radiological finding by magnetic resonance imaging examination of the brain in
Coffin-Lowry syndrome. J Hum Genet 1998;43(1):59-61 Abstract |
 | Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome
Eur J Hum
Genet 1999 Jan;7(1):20-6 [PDF] Full Text |
 |
Osf2/Cbfa1: A Transcriptional Activator of Osteoblast
Differentiation Cell, Vol 89, 747-754, 30
May 1997 Abstract |
 |
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and
premature tooth loss as early manifestations. Am J Med Genet 1993
Mar 1;45(5):552-7 [PDF] Full Text |
 |
Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint
linkage analysis. Am J Med Genet 1988 May-Jun;30(1-2):523-30 Abstract |
 |
Rapid immunoblot and kinase assay tests for a syndromal form of X linked
mental retardation: Coffin-Lowry syndrome. J Med Genet 1998
Nov;35(11):890-4 Abstract |
 |
Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation
of histone H3. Science. 1999 Aug 6;285(5429):886-91. Abstract.
|
 |
Rsk-2 activity is necessary for epidermal growth factor-induced
phosphorylation of CREB protein and transcription of c-fos gene. Proc
Natl Acad Sci U S A 1998 Oct 13;95(21):12202-7 Abstract |
 |
RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes
Nakamura M,
Yamagata T,
Mori M,
Momoi MY. Brain Dev. 2005 Mar;27(2):114-7.
Abstract |
 |
Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome.
PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202
[PDF] Full Text |
 |
The
association between Coffin-Lowry syndrome and psychosis: a family study.
J Intellect Disabil Res 1994 Oct;38 ( Pt 5):469-73 Full Text |
 |
The Coffin-Lowry syndrome. A study of two new index patients and their
families. Eur J Pediatr 1984 Dec;143(2):82-6 Abstract |
 |
The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine
secretion through the regulation of phospholipase D1 at the exocytotic sites.
Ann NY Acad Sci. 2009 Jan; 1152:201-8 Zeniou-Meyer M, Béglé A,
Bader MF, Vitale N. Abstract |
 |
The
Coffin-Lowry syndrome. Experience from four centres. Clin Genet
1982 May;21(5):321-35 Abstract |
 |
The Coffin-Lowry syndrome: an inherited faciodigital mental retardation
syndrome. J Pediatr 1975 May;86(5):724-31 Abstract |
 |
The Musculoskeletal Manifestations of the Coffin-Lowry Syndrome Journal of Pediatric Orthopaedics:
January/February 2007 - Volume 27 - Issue 1
- pp 85-89; doi: 10.1097/01.bpo.0000187994.94515.9d; Spine: Original Article.
Herrera-Soto, Jose A. MD; Santiago-Cornier, Alberto MD; Segal, Lee S. MD;
Ramirez, Norman MD; Tamai, Junichi MD
Abstract |
 |
The movement disorders of Coffin-Lowry syndrome. Stephenson JBP,
Hoffman MC, Russel, AJ, Falconer J, Beach RC,
Tolmie JL, Mcwilliam RC, Zuberi SM.
Brain Dev. 2005 Mar;27(2):108-13.
Full Text
|
 | Treatment of Drop Attacks
in Coffin-Lowry Syndrome With the Use of Sodium Oxybate Navasuma Havaligi,
MD, Chandra Matadeen-Ali, MD, Divya S. Khurana, MD, Harold Marks, MD, and
Sanjeev V. Kothare, MD Pediatr Neurol 2007;37: 373-374. Full Text
|
 | Unreported RSK2 missense
mutation in two males sibs with an unusually mild form of Coffin-Lowry
syndrome. J Med Genet
1999;36:775-778 ( October ) [PDF] Full Text |
 |
Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic
Heterogeneity in Coffin-Lowry Syndrome Am J Hum Genet. 2002 June;
70(6): 1421–1433. Full Text. |
 |
X-linked
Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known
under various names: pp90rsk2, RSK2, ISPK, MAPKAP1)
European Journal of Human Genetics
(2002) 10, 2-5 DOI: 10.1038/sj/ejhg/5200738 [PDF] Full Text |