Works matching DE "COFFIN-Lowry syndrome"

Results: 17

RSK2 Is a Modulator of Craniofacial Development.

Published in:

PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084343

By:

Laugel-Haushalter, Virginie;
Paschaki, Marie;
Marangoni, Pauline;
Pilgram, Coralie;
Langer, Arnaud;
Kuntz, Thibaut;
Demassue, Julie;
Morkmued, Supawich;
Choquet, Philippe;
Constantinesco, André;
Bornert, Fabien;
Schmittbuhl, Matthieu;
Pannetier, Solange;
Viriot, Laurent;
Hanauer, André;
Dollé, Pascal;
Bloch-Zupan, Agnès

Publication type:

Article

Airway management of a patient with coffin-lowry syndrome: a case report.

Published in:

BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02667-7

By:

Ghose, Shaarav;
Nisar, Faria;
Aleem, Bushra Abdul

Publication type:

Article

An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 11, p. 755, doi. 10.1038/jhg.2013.88

By:

Matsumoto, Ayumi;
Kuwajima, Mari;
Miyake, Kunio;
Kojima, Karin;
Nakashima, Naomi;
Jimbo, Eriko F;
Kubota, Takeo;
Momoi, Mariko Y;
Yamagata, Takanori

Publication type:

Article

A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.

Published in:

Iranian Journal of Child Neurology, 2017, v. 11, n. 4, p. 77

By:

OWLIA, Fatemeh;
AKHAVAN KARBASSI, Mohammad-Hassan;
HAKIMIAN, Roqayeh;
ALEMRAJABI, Mohammad Sadegh

Publication type:

Article

Coffin-Siris syndrome is a SWI/ SNF complex disorder.

Published in:

Clinical Genetics, 2014, v. 85, n. 6, p. 548, doi. 10.1111/cge.12225

By:

Tsurusaki, Y.;
Okamoto, N.;
Ohashi, H.;
Mizuno, S.;
Matsumoto, N.;
Makita, Y.;
Fukuda, M.;
Isidor, B.;
Perrier, J.;
Aggarwal, S.;
Dalal, A.B.;
Al‐Kindy, A.;
Liebelt, J.;
Mowat, D.;
Nakashima, M.;
Saitsu, H.;
Miyake, N.

Publication type:

Article

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Published in:

Clinical Genetics, 2014, v. 85, n. 1, p. 96, doi. 10.1111/cge.12122

By:

Maystadt, I;
Destree, A;
Benoit, V;
Aeby, A;
Lederer, D;
Moortgat, S;
Jurkiewicz, D;
Krajewska‐Walasek, M;
Hanauer, A;
Thomas, GM

Publication type:

Article

Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction.

Published in:

Frontiers in Behavioral Neuroscience, 2018, p. 1, doi. 10.3389/fnbeh.2018.00106

By:

Fischer, Matthias;
Raabe, Thomas

Publication type:

Article

The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase DI (PLD1) and Synthesis of Phosphatidic Acid.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 50, p. 19470, doi. 10.1523/JNEUROSCI.2283-13.2013

By:

Ammar, Mohamed-Raafet;
Humeau, Yann;
Hanauer, André;
Nieswandt, Bernard;
Bader, Marie-France;
Vitale, Nicolas

Publication type:

Article

Chewing and swallowing training in Coffin–Lowry syndrome: A case report.

Published in:

2024

By:

Söyler, Ayşe Kübra;
Serel Arslan, Selen;
Demir, Numan;
Karaduman, Aynur Ayşe;
Düger, Tülin

Publication type:

Case Study

Síndrome de Coffin-Lowry.

Published in:

2014

By:

García-Suárez, Adrián;
Dansac-Rivera, Arie Benoit

Publication type:

Case Study

Coffin-Lowry Syndrome (CLS).

Published in:

Dialog: Journal of the Texas Educational Diagnosticians Association, 2015, v. 44, n. 2, p. 21

By:

Hausman, Ralph M.;
Sorgi, Rachel F.

Publication type:

Article

Rsk2 Knockout Affects Emotional Behavior in the IntelliCage.

Published in:

Behavior Genetics, 2017, v. 47, n. 4, p. 434, doi. 10.1007/s10519-017-9853-3

By:

Lesch, Klaus-Peter;
Fischer, Matthias;
Cabello, Victoria;
Hommers, Leif;
Deckert, Jürgen;
Schmitt-Böhrer, Angelika;
Popp, Sandy;
Krackow, Sven

Publication type:

Article

Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.

Published in:

2016

By:

Koehne, T.;
Jeschke, A.;
Petermann, F.;
Seitz, S.;
Neven, M.;
Peters, S.;
Luther, J.;
Schweizer, M.;
Schinke, T.;
Kahl-Nieke, B.;
Amling, M.;
David, J.-P.

Publication type:

journal article

The natural history of spinal deformity in patients with Coffin-Lowry syndrome.

Published in:

Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2018, v. 12, n. 1, p. 70, doi. 10.1302/1863-2548.12.170101

By:

Welborn, M.;
Farrell, S.;
Knott, P.;
Mayekar, E.;
Mardjetko, S.

Publication type:

Article

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

Published in:

Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8

By:

Bramswig, Nuria;
Lüdecke, Hermann-Josef;
Alanay, Yasemin;
Albrecht, Beate;
Barthelmie, Alexander;
Boduroglu, Koray;
Braunholz, Diana;
Caliebe, Almuth;
Chrzanowska, Krystyna;
Czeschik, Johanna;
Endele, Sabine;
Graf, Elisabeth;
Guillén-Navarro, Encarna;
Kiper, Pelin;
López-González, Vanesa;
Parenti, Ilaria;
Pozojevic, Jelena;
Utine, Gulen;
Wieland, Thomas;
Kaiser, Frank

Publication type:

Article

Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome.

Published in:

European Review for Medical & Pharmacological Sciences, 2016, v. 20, n. 3, p. 498

By:

IMATAKA, G.;
NAKAJIMA, I.;
GOTO, K.;
KONNO, W.;
HIRABAYASHI, H.;
ARISAKA, O.

Publication type:

Article

Neonatal Hyperekplexia.

Published in:

Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201

By:

Tanigasalam, Vasanthan

Publication type:

Article