2024

• Airway management of a patient with coffin-lowry syndrome: a case report – PubMed (nih.gov) Ghose S, Nisar F, Aleem BA, 2024 Aug 14
• Chewing and swallowing training in Coffin-Lowry syndrome: A case report – PubMed (nih.gov) Söyler AK, Serel Arslan S, Demir N, Karaduman AA, Düger T, 2024 Aug 2
• Identification of RSK substrates using an analog-sensitive kinase approach – PubMed (nih.gov) Lizcano-Perret B, Vertommen D, Herinckx G, Calabrese V, Gatto L, Roux PP, Michiels T, 2024 Mar

2023

• An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report – PubMed (nih.gov) Tan SL, Ahmad Narihan MGB, Koa AJ, 2023 Oct 28
• Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with a de novo RPS6KA3 mutation – PubMed (nih.gov) Wen X, Du J, Li Z, Liu N, Huo J, Li J, Ke W, Wu J, Fang X, Lin X, 2023 Sep 14
• Delayed postnatal brain development and ontogenesis of behavior and cognition in a mouse model of intellectual disability – PubMed (nih.gov) Gonzalez L, Sébrié C, Laroche S, Vaillend C, Poirier R, 2023 Jul
• RPS6KA3-Related Intellectual Disability – PubMed (nih.gov) Rogers RC, Abidi FE, 2002 Updated Mar 2023
• Exploring the impacts of a coffin-lying experience on life and death attitudes of medical and nursing students: preliminary findings – PubMed (nih.gov) Chiou RJ, Tsai PF, Han DY, 2023 Jan 5
• Accelerated tooth movement in Rsk2-deficient mice with impaired cementum formation – PubMed (nih.gov) Nottmeier C, Decker MG, Luther J, von Kroge S, Kahl-Nieke B, Amling M, Schinke T, Petersen J, Koehne T, 2020 Dec 23

2022

• https://www.sciencedirect.com/topics/medicine-and-dentistry/startle-epilepsy, Sterre van der Veen, … Marina A.J. Tissen, in Clinical Neurophysiology Practice, 2022
• Mitral valve repair and tricuspid annuloplasty for Coffin-Lowry syndrome – PubMed (nih.gov) Wakami T, Yoshizawa K, Maeda T, Mori O, Tamura N, 2022 Nov
• Defective synaptic plasticity in a model of Coffin-Lowry syndrome is rescued by simultaneously targeting PKA and MAPK pathways – PubMed (nih.gov) Gürsoy S, Hazan F, Çetinoğlu E, 2022 Oct 1
• Mitral valve repair and tricuspid annuloplasty for Coffin-Lowry syndrome – PubMed (nih.gov) Wakami T, Yoshizawa K, Maeda T, Mori O, Tamura N, 2022 Nov
• Case Report: Chinese female patients with a heterozygous pathogenic RPS6KA3 gene variant c.898C>T and distal 22q11.2 microdeletion – PubMed (nih.gov) Cong Y, Jin H, Wu K, Wang H, Wang D, 2022 Aug 15
• Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins – PubMed (nih.gov) Jin H, Li H, Qiang S, 2022 Jul 20
• Short Bones, Renal Stones, and Diagnostic Moans: Hypercalcemia in a Girl Found to Have Coffin-Lowry Syndrome – PubMed (nih.gov) Tise CG, Matalon DR, Manning MA, Byers HM, Grover M, 2022 Jan-Dec
• Premature Loss of Deciduous Teeth as a Symptom of Systemic Disease: A Narrative Literature Review – PubMed (nih.gov) Spodzieja K, Olczak-Kowalczyk D, 2022 Mar 13
• First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review – PubMed (nih.gov) Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK, 2023 Mar
• [Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication] – PubMed (nih.gov) Zeng L, Xu Q, Li L, Wu L, 2020 Aug 10
• Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing – PubMed (nih.gov) Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T, 2020 Apr 6
• Role of p90 ribosomal S6 kinase in long-term synaptic facilitation and enhanced neuronal excitability – PubMed (nih.gov) Liu RY, Zhang Y, Smolen P, Cleary LJ, Byrne JH, 2020 Jan 17
• https://my.clevelandclinic.org/health/diseases/24114-coffin-lowry-syndrome, Sep 2022

2021

• Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes – PubMed (nih.gov) Di Stazio M, Bigoni S, Iuso N, Vuch J, Selvatici R, Ulivi S, d’Adamo PA, 2021 Aug 22
• Quantitative description of the interactions among kinase cascades underlying long-term plasticity of Aplysia sensory neurons – PubMed (nih.gov) Zhang Y, Smolen PD, Cleary LJ, Byrne JH, 2021 Jul 22
• Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2 – PubMed (nih.gov) Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C, 2021 Jan

2020

• Accelerated tooth movement in Rsk2-deficient mice with impaired cementum formation – PubMed (nih.gov) Nottmeier C, Decker MG, Luther J, von Kroge S, Kahl-Nieke B, Amling M, Schinke T, Petersen J, Koehne T, 2020 Dec 23
• Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways – PubMed (nih.gov) Smolen P, Wood MA, Baxter DA, Byrne JH, 2020 Nov 11
• Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2 – PubMed (nih.gov) Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C, 2021 Jan
• [Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication] – PubMed (nih.gov) Zeng L, Xu Q, Li L, Wu L.Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2020 Aug 10
• Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of RPS6KA3 disruption by whole genome sequencing – PubMed (nih.gov) Yamoto K, Saitsu H, Fujisawa Y, Kato F, Matsubara K, Fukami M, Kagami M, Ogata T, 2020 Apr 6
• Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder – PubMed (nih.gov), Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G, 2020 Nov
• Role of p90 ribosomal S6 kinase in long-term synaptic facilitation and enhanced neuronal excitability – PubMed (nih.gov) Liu RY, Zhang Y, Smolen P, Cleary LJ, Byrne JH, 2020 Jan 17
• Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers – PubMed (nih.gov) Vasiliadis D, Dierks C, Hoffmann H, Hellige M, Hewicker-Trautwein M, Metzger J, Distl O, 2020 Feb
• [Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication] – PubMed (nih.gov) Zeng L, Xu Q, Li L, Wu L, 2020 Aug 10

2019

• BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex-a tumour suppressor or tumour-promoting factor? – PubMed (nih.gov) Jancewicz I, Siedlecki JA, Sarnowski TJ, Sarnowska E, 2019 Nov 13
• An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3 – PubMed (nih.gov) Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD, 2019 Dec
• [Analysis of RPS6KA3 gene mutation in a Chinese pedigree affected with Coffin-Lowry syndrome] – PubMed (nih.gov) Shen N, Liu Y, Zhang K, Lyu Y, Gao M, Ma J, Xu L, Gai Z, 2019 Aug 10
• Coffin-Lowry syndrome in Chinese – PubMed (nih.gov) Fung JLF, Rethanavelu K, Luk HM, Ho MSP, Lo IFM, Chung BHY, 2019 Oct
• A Bizarre Gait as a Result of Overlapping Functional Disorder With Coffin-Lowry Syndrome – PubMed (nih.gov) Brás A, Pedruco A, Maia S, Fineza I, Morgadinho A, Bento C, 2019 May 22
• Severe Restrictive Lung Disease in One of the Oldest Documented Males With Coffin-Lowry Syndrome – PubMed (nih.gov) Venter F, Evans A, Fontes C, Stewart C, 2019 Jan-Dec
• Growth Concerns in Coffin-Lowry Syndrome: A Case Report and Literature Review – PubMed (nih.gov) Lv Y, Zhu L, Zheng J, Wu D, Shao J, 2019 Jan 25
• De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism – PubMed (nih.gov) Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, Kühl SJ, Dean JCS, Pilz DT, Holder SE, 2019 Feb 7

2018

• Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction – PubMed (nih.gov) Fischer M, Raabe T, 2018 May 23
• The natural history of spinal deformity in patients with Coffin-Lowry syndrome.  Welborn M, Farrell S, Knott P, Mayekar E, Mardjetko S. Child Orthop, 2018 Feb 1
• Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2 – PubMed (nih.gov) Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C, 2021 Jan
• Drosophila RSK Influences the Pace of the Circadian Clock by Negative Regulation of Protein Kinase Shaggy Activity – PubMed (nih.gov) Beck K, Hovhanyan A, Menegazzi P, Helfrich-Förster C, Raabe T, 2018 Apr 13
• Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene – PubMed (nih.gov) Miyata Y, Saida K, Kumada S, Miyake N, Mashimo H, Nishida Y, Shirai I, Kurihara E, Nakata Y, Matsumoto N, 2018 Aug
• Selective alteration of adult hippocampal neurogenesis and impaired spatial pattern separation performance in the RSK2-deficient mouse model of Coffin-Lowry syndrome – PubMed (nih.gov) Castillon C, Lunion S, Desvignes N, Hanauer A, Laroche S, Poirier R, 2018 Jul
• The natural history of spinal deformity in patients with Coffin-Lowry syndrome – PubMed (nih.gov) Welborn M, Farrell S, Knott P, Mayekar E, Mardjetko S.J Child, 2018 Feb 1

2017

• Foramen magnum compression in Coffin-Lowry syndrome: A case report. PubMed Upadia, Jariya; Oakes, Jerry; Hamm, Austin; Hurst, Anna C E; Robin, Nathaniel H. 2017-02-12
• Perioperative management of a patient with Coffin-Lowry syndrome complicated by severe obesity: A case report and literature review – PubMed (nih.gov) Hirakawa M, Nishihara T, Nakanishi K, Kitamura S, Fujii S, Ikemune K, Dote K, Takasaki Y, Yorozuya T, 2017 Dec
• A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World – PubMed (nih.gov) Owlia F, Akhavan Karbassi MH, Hakimian R, Alemrajabi MS, 2017 Fall
• Molecular Targeting of ERKs/RSK2 Signaling in Cancers – PubMed (nih.gov) Cho YY, 2017 Nov 16
• Rsk2 Knockout Affects Emotional Behavior in the IntelliCage – PubMed (nih.gov) Fischer M, Cabello V, Popp S, Krackow S, Hommers L, Deckert J, Lesch KP, Schmitt-Böhrer AG, 2017 Jul
• High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing – PubMed (nih.gov) Kim YM, Lee YJ, Park JH, Lee HD, Cheon CK, Kim SY, Hwang JY, Jang JH, Yoo HW, 2017 Dec
• Foramen magnum compression in Coffin-Lowry syndrome: A case report – PubMed (nih.gov) Upadia J, Oakes J, Hamm A, Hurst AC, Robin NH, 2017 Apr

2016

• Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea. PubMed Imataka, G; Nakajima, I; Goto, K; Konno, W; Hirabayashi, H; Arisaka, O 2016-01-01
• Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. PubMed Labonne, Jonathan D J; Chung, Min Ji; Jones, Julie R; Anand, Priya; Wenzel, Wolfgang; Iacoboni, Daniela; Layman, Lawrence C; Kim, Hyung-Goo 2016-01-01
• Mechanical ventilation in Coffin-Lowry syndrome: a case report – PubMed (nih.gov) Moura EB, Moura ÉL, Amorim FF, Oliveira VM, 2016 Oct-Dec
• Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes – PubMed (nih.gov) Giorgio E, Brussino A, Biamino E, Belligni EF, Bruselles A, Ciolfi A, Caputo V, Pizzi S, Calcia A, Di Gregorio, 2017 May
• Bacterial Expression, Purification and In Vitro Phosphorylation of Full-Length Ribosomal S6 Kinase 2 (RSK2) – PubMed (nih.gov) Utepbergenov D, Hennig PM, Derewenda U, Artamonov MV, Somlyo AV, Derewenda ZS, 2016 Oct 12
• Eight years of follow-up after laminectomy of calcium pyrophosphate crystal deposition in the cervical yellow ligament of patient with Coffin-Lowry syndrome: A case report – PubMed (nih.gov) Morino T, Ogata T, Horiuchi H, Yamaoka S, Fukuda M, Miura H, 2016 Aug
• Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation – PubMed (nih.gov) Koehne T, Jeschke A, Petermann F, Seitz S, Neven M, Peters S, Luther J, Schweizer M, Schinke T, Kahl-Nieke B, Amling M, David JP, 2016 Jul
• Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome – PubMed (nih.gov) Imataka G, Nakajima I, Goto K, Konno W, Hirabayashi H, Arisaka O

2015

• Mitral and tricuspid valve surgery for Coffin-Lowry syndrome.Yoshida, Takeshi; Ohashi, Takeki; Furui, Masato; Kageyama, Souichirou; Kodani, Noriko; Kobayashi, Yutaka; Hirai, Yasutaka; Sakakura, Reo PubMed, 05/01/2015
• Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. PubMed Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan 2015-07-01
• A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898CT mutation associated with multiple abnormal brain imaging findings. PubMed Tos, T; Alp, M Y; Aksoy, A; Ceylaner, S; Hanauer, A 2015-01-01
• Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in Drosophila motoneurons – PubMed (nih.gov) Beck K, Ehmann N, Andlauer TF, Ljaschenko D, Strecker K, Fischer M, Kittel RJ, Raabe T, 2015 Nov
• 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability – PubMed (nih.gov) Bertini V, Cambi F, Bruno R, Toschi B, Forli F, Berrettini S, Simi P, Valetto A, 2015 Dec
• Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome – PubMed (nih.gov) Labonne JD, Chung MJ, Jones JR, Anand P, Wenzel W, Iacoboni D, Layman LC, Kim HG, 2016 Jan 1
• Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome – PubMed (nih.gov) Gschwind M, Foletti G, Baumer A, Bottani A, Novy J, 2015 Jul
• [Deletion of the RPS6KA3 gene in a female with a classical phenotype of Coffin-Lowry syndrome including stimulus-induced drop attacks] – PubMed (nih.gov) Quintela I, Barros-Angueira F, Pérez-Gay L, Castro-Gago M, Carracedo Á, Eirís-Puñal J, 2015 Jul
• A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings – PubMed (nih.gov) Tos T, Alp MY, Aksoy A, Ceylaner S, Hanauer A, 2015
• Consider the neuro-cardiac continuum of Coffin-Lowry syndrome! – PubMed (nih.gov) Stöllberger C, Finsterer J, 2015 Aug

2014

• Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. PubMed Rojnueangnit, Kitiwan; Jones, Julie R; Basehore, Monica J; Robin, Nathaniel H 2014-02-01
• The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. PubMed Nishimoto, Hiromi Koso; Ha, Kyungsoo; Jones, Julie R; Dwivedi, Alka; Cho, Hyun-Min; Layman, Lawrence C; Kim, Hyung-Goo 2014-09-01
• Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome – PubMed (nih.gov) Arslan EA, Ceylaner S, Turanlı G, 2014 Nov 25
• [Coffin-Lowry syndrome. Its association with congenitally narrow cervical canal and myelomalacia] – PubMed (nih.gov) García-Suárez A, Dansac-Rivera AB, 2014 Nov-Dec
• Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father – PubMed (nih.gov) Loupe J, Sampath S, Lacassie Y, 2014 Oct
• The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients – PubMed (nih.gov) Nishimoto HK, Ha K, Jones JR, Dwivedi A, Cho HM, Layman LC, Kim HG, 2014 Sep
• [Boy with Coffin-Lowry syndrome associated with spinal cord injuries] – PubMed (nih.gov) Kawana Y, Okamura K, Kurahashi K, 2014 Feb

2013

• Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. PubMed Schneider, Anne; Maas, Saskia M; Hennekam, Raoul C M; Hanauer, André 2013-03-01

2012

• Stimulus-induced drop episodes in Coffin-Lowry syndrome. Hahn JS, Hanauer A. Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review. PMID:22490425

2011

• Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. Norderyd J, Aronsson J. Int J Paediatr Dent. 2012 Mar;22(2):154-6. doi: 10.1111/j.1365-263X.2011.01160.x. Epub 2011 Jul 22. PMID: 21781198
• Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A. Hum Genet. 2011 Mar;129(3):255-69. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie]. PMID:21116650

2001

• Coffin-Lowry Syndrome author, Dr. Andre Hanauer Sept 2001 OrphaNet 

2001-2010

• Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. PubMed Dugani, Chandrasagar B; Paquin, Annie; Kaplan, David R; Miller, Freda D 2010-11-15
• The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N. Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. Review.PMID: 21061166
• Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. Dugani CB, Paquin A, Kaplan DR, Miller FD. Dev Biol. 2010 Nov 15;347(2):348-59. Epub 2010 Sep 8. PMID: 20832397
• The Coffin-Lowry syndrome: a case report and review of the literature. Lange IR, Stone P, Aftimos S. J Obstet Gynaecol Can. 2010 Jul;32(7):691-4. Review. PMID: 20707959 PubMed
• Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. Epub 2010 Jul 15. PMID: 20637903
• Coffin-Lowry Syndrome and Left Ventricular Noncompaction Cardiomyopathy With a Restrictive Pattern American Journal of Medical Genetics Part A 99999:1-5 2010 Full Text.
• Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome Tahir Mehmood • Anne Schneider • Je´re´mie Sibillec • Patricia Marques Pereira • Solange Pannetier • Mohamed Raafet Ammar • Doulaye Dembele • Christelle Thibault-Carpentier • Nathalie Rouach • Andre´ Hanauer  Hum Genet DOI 10.1007/s00439-010-0918-0 September 2010
• Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Eur J Med Genet. 2010 Jul 14 [Epub ahead of print]
• Coffin-Lowry Syndrome European Journal of Human Genetics (2010) 18, 627-633; doi:10.1038/ejhg.2009.189 Full Text
• 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; Zeniou-Meyer M, Béglé A, Bader MF, Vitale N. Abstract
• The Coffin–Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1 Proc Natl Acad Sci U S A. 2008 Jun 17; 105(24): 8434–8439.
• 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
• 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
• 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
• 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
• Learning and Memory Paul Lombroso, Rev Bras Pisquiatr 2004:26(3):207-10, original version accepted in English. [PDF] Full Text
• Cardiomyopathy in Coffin-Lowry syndrome. American Journal of Medical Genetics Part A 2004 Volume 128A, Issue 2 , Pages 176 – 178. Full Text (PDF)
• 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
• Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome. PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 [PDF] Full Text
• Coffin-Lowry syndrome: clinical and molecular features Med Genet 2002; 39:705-713 [PDF] Full Text (PDF)
• Coffin-Lowry syndrome GeneReviews – Funded by the NIH – Developed at the University of Washington, Seattle.  July 16, 2002.
• 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
• A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. Eur J Pediatr 2002 Apr;161(4):179-87. Abstract 
• https://ern-ithaca.eu/wp-content/uploads/2020/12/Hanauer_CLs_molec_JMedGenet2002.pdf, A Hanauer, I D Young, 2002
• 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

1991-2000

• 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
• 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
• 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
• Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome Eur J Hum Genet 1999 Jan;7(1):20-6 [PDF] Full Text
• Cardiac involvement in Coffin-Lowry syndrome Acta Paediatr 1999 Apr;88(4):468-70.  Abstract.
• Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3. Science. 1999 Aug 6;285(5429):886-91.  Abstract.
• Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome  Otorhinolaryngol Relat Spec. 1998 Jul-Aug;60(4):224-6. Abstract
• Germline mosaicism in Coffin-Lowry syndrome. Eur J Hum Genet 1998 Nov-Dec;6(6):578-82 [PDF] Full Text
• https://pubmed.ncbi.nlm.nih.gov/7841685/ The association between Coffin-Lowry syndrome and psychosis: a family study, Oct 1994
• 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

1981-1990

• https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1365-2788.1987.tb01356.x Coffin-Lowry syndrome and schizophrenia: a family report, June 1987
• Brief clinical report: early recognition of the Coffin-Lowry syndrome. Am J Med Genet 1981;8(2):215-20 Abstract