Works matching DE "COSTELLO syndrome"

Results: 41

Costello syndrome.

Published in:: Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. 1, doi. 10.19224/ai2021.S075
Publication type:: Article

Anaesthesia recommendations for Costello syndrome.

Published in:

Anaesthesiologie & Intensivmedizin, 2021, v. 62, n. 3, p. S75, doi. 10.19224/ai2021.S075

By:

D'Souza, Stanlies;
Wainwright, Mark

Publication type:

Article

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 4, p. 404, doi. 10.1111/ced.12571

By:

Xu, F.;
Wang, H. J.;
Lin, Z. M.;
Yu, B.

Publication type:

Article

Impaired synaptic plasticity in RASopathies: a mini-review.

Published in:

Journal of Neural Transmission, 2016, v. 123, n. 10, p. 1133, doi. 10.1007/s00702-016-1609-3

By:

Mainberger, Florian;
Langer, Susanne;
Mall, Volker;
Jung, Nikolai

Publication type:

Article

A YWHAZ Variant Associated With Cardiofaciocutaneous Syndrome Activates the RAF-ERK Pathway.

Published in:

Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00388

By:

Popov, Ivan K.;
Hiatt, Susan M.;
Whalen, Sandra;
Keren, Boris;
Ruivenkamp, Claudia;
van Haeringen, Arie;
Chen, Mei-Jan;
Cooper, Gregory M.;
Korf, Bruce R.;
Chang, Chenbei

Publication type:

Article

Neonatal hyperinsulinism—broadening the differential diagnosis.

Published in:

2023

By:

Metivier, Emma;
Prasad, Madhavi;
Prasad, Chitra

Publication type:

Case Study

Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation.

Published in:

Italian Journal of Pediatrics, 2016, v. 42, p. 1, doi. 10.1186/s13052-015-0209-4

By:

Blachowska, Ewa;
Petriczko, Elżbieta;
Horodnicka-Józwa, Anita;
Skórka, Agata;
Pelc, Magdalena;
Krajewska-Walasek, Małgorzata;
Walczak, Mieczysław

Publication type:

Article

Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.

Published in:

Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1

By:

WEAVER, K. NICOLE;
WANG, DEHUA;
CNOTA, JAMES;
GARDNER, NICHOLAS;
STABLEY, DEBORAH;
SOL-CHURCH, KATIA;
GRIPP, KAREN W.;
WITTE, DAVID P.;
BOVE, KEVIN E.;
HOPKIN, ROBERT J.

Publication type:

Article

Anesthetic Management of Costello Syndrome: A Case Report.

Published in:

AANA Journal, 2014, v. 82, n. 2, p. 108

By:

Williams, Christol

Publication type:

Article

Palmoplantar Keratoderma in Costello Syndrome Responsive to Acitretin.

Published in:

Pediatric Dermatology, 2017, v. 34, n. 2, p. 160, doi. 10.1111/pde.13057

By:

Marukian, Nareh V.;
Levinsohn, Jonathan L.;
Craiglow, Brittany G.;
Milstone, Leonard M.;
Choate, Keith A.

Publication type:

Article

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review.

Published in:

Pediatric Dermatology, 2013, v. 30, n. 6, p. 665, doi. 10.1111/pde.12171

By:

Morice‐Picard, Fanny;
Ezzedine, Khaled;
Delrue, Marie‐Ange;
Arveiler, Benoit;
Fergelot, Patricia;
Taïeb, Alain;
Lacombe, Didier;
Boralevi, Franck

Publication type:

Article

Costello Syndrome with Severe Nodulocystic Acne: Unexpected Significant Improvement of Acanthosis Nigricans after Oral Isotretinoin Treatment.

Published in:

Case Reports in Pediatrics, 2015, v. 2015, p. 1, doi. 10.1155/2015/934865

By:

Sriboonnark, Leelawadee;
Arora, Harleen;
Falto-Aizpurua, Leyre;
Choudhary, Sonal;
Connelly, Elizabeth Alvarez

Publication type:

Article

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c. 179G>T; p. Gly60Val) affecting signalling dynamics.

Published in:

Clinical Genetics, 2017, v. 92, n. 3, p. 332, doi. 10.1111/cge.12980

By:

Gripp, K.W.;
Kolbe, V.;
Brandenstein, L.I.;
Rosenberger, G.

Publication type:

Article

Malignancy in Noonan syndrome and related disorders.

Published in:

Clinical Genetics, 2015, v. 88, n. 6, p. 516, doi. 10.1111/cge.12568

By:

Smpokou, P.;
Zand, D.J.;
Rosenbaum, K.N.;
Summar, M.L.

Publication type:

Article

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.

Published in:

Clinical Genetics, 2012, v. 81, n. 6, p. 590, doi. 10.1111/j.1399-0004.2011.01754.x

By:

Stark, Z;
Gillessen-Kaesbach, G;
Ryan, MM;
Cirstea, IC;
Gremer, L;
Ahmadian, MR;
Savarirayan, R;
Zenker, M

Publication type:

Article

Human iPS Cell-Derived Neurons Uncover the Impact of Increased Ras Signaling in Costello Syndrome.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 1, p. 142, doi. 10.1523/JNEUROSCI.1547-15.2016

By:

Rooney, Gemma E.;
Goodwin, Alice F.;
Depeille, Philippe;
Sharir, Amnon;
Schofield, Claude M.;
Yeh, Erika;
Roose, Jeroen P.;
Klein, Ophir D.;
Rauen, Katherine A.;
Weiss, Lauren A.;
Ullian, Erik M.

Publication type:

Article

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Published in:

PLoS Genetics, 2016, v. 12, n. 5, p. 1, doi. 10.1371/journal.pgen.1006039

By:

Hartung, Anne-Mette;
Swensen, Jeff;
Uriz, Inaki E.;
Lapin, Morten;
Kristjansdottir, Karen;
Petersen, Ulrika S. S.;
Bang, Jeanne Mari V.;
Guerra, Barbara;
Andersen, Henriette Skovgaard;
Dobrowolski, Steven F.;
Carey, John C.;
Yu, Ping;
Vaughn, Cecily;
Calhoun, Amy;
Larsen, Martin R.;
Dyrskjøt, Lars;
Stevenson, David A.;
Andresen, Brage S.

Publication type:

Article

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

Published in:

Pediatric Cardiology, 2016, v. 37, n. 8, p. 1539, doi. 10.1007/s00246-016-1468-6

By:

Choi, Jin-Ho;
Lee, Beom;
Yoo, Han-Wook;
Jhang, Won;
Kim, Gu-Hwan

Publication type:

Article

RASopathies and spinal deformities for screening of scoliosis.

Published in:

Pediatrics International, 2023, v. 65, n. 1, p. 1, doi. 10.1111/ped.15589

By:

Machida, Masayoshi;
Rocos, Brett;
Ohashi, Hirofumi;
Taira, Katsuaki;
Nemoto, Naho;
Oikawa, Noboru;
Kaguchi, Ryoma;
Nakanishi, Kazuyoshi

Publication type:

Article

Syndromes with gingival fibromatosis: A systematic review.

Published in:

Oral Diseases, 2021, v. 27, n. 4, p. 881, doi. 10.1111/odi.13369

By:

Costa, Cláudio Rodrigues Rezende;
Braz, Shélida Vasconcelos;
Toledo, Isabela Porto;
Martelli‐Júnior, Hercilio;
Mazzeu, Juliana Forte;
Guerra, Eliete Neves Silva;
Coletta, Ricardo D.;
Acevedo, Ana Carolina

Publication type:

Article

Costello Sendromunda Kardiyak Tutulum: Altı Olgunun Değerlendirilmesi.

Published in:

Journal of Current Pediatrics / Guncel Pediatri, 2013, v. 11, n. 2, p. 63, doi. 10.4274/Jcp.11.44153

By:

Uysal, Fahrettin;
Bostan, Özlem Mehtap;
Semizel, Evren;
Akaltun, Filiz;
Üner, Gülcan;
Çil, Ergün

Publication type:

Article

Author's Reply.

Published in:

2016

By:

Akçıl, Eren Fatma;
Dilmen, Özlem Korkmaz;
Tunalı, Yusuf

Publication type:

Letter to the Editor

Laryngeal Mask Airway Anaesthesia in Hypotonic Cases with Expected Difficult Intubation.

Published in:

2016

By:

Palabıyık, Onur

Publication type:

Letter to the Editor

Cellular evidence for selfish spermatogonial selection in aged human testes.

Published in:

Andrology, 2014, v. 2, n. 3, p. 304, doi. 10.1111/j.2047-2927.2013.00175.x

By:

Maher, G. J.;
Goriely, A.;
Wilkie, A. O. M.

Publication type:

Article

HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 6, p. 837, doi. 10.1038/ejhg.2013.251

By:

Beukers, Willemien;
Hercegovac, Aleksander;
Zwarthoff, Ellen C

Publication type:

Article

C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 8, p. 870, doi. 10.1038/ejhg.2012.12

By:

Klüppel, Michael;
Samavarchi-Tehrani, Payman;
Liu, Kela;
Wrana, Jeffrey L;
Hinek, Aleksander

Publication type:

Article

Categories of Information Need Expressed by Parents of Individuals with Rare Genetic Disorders in a Facebook Community Group: A Case Study with Implications for Information Professionals.

Published in:

Journal of Consumer Health on the Internet, 2020, v. 24, n. 1, p. 20, doi. 10.1080/15398285.2020.1713700

By:

Wang, Ting;
Lund, Brady

Publication type:

Article

Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.

Published in:

Children, 2022, v. 9, n. 6, p. 905, doi. 10.3390/children9060905

By:

Syu, Yu-Min;
Lee, Hung-Chang;
Chang, Jui-Hsing;
Lee, Chung-Lin;
Chuang, Chih-Kuang;
Chiu, Huei-Ching;
Chang, Ya-Hui;
Lin, Hsiang-Yu;
Lin, Shuan-Pei

Publication type:

Article

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.

Published in:

Frontiers in Oncology, 2017, v. 7, p. 1, doi. 10.3389/fonc.2017.00042

By:

Cartledge, Donna M.;
Robbins, Katherine M.;
Drake, Katherine M.;
Sternberg, Rachel;
Stabley, Deborah L.;
Gripp, Karen W.;
Kolb, E. Anders;
Sol-Church, Katia;
Napper, Andrew D.

Publication type:

Article

Dysregulation of astrocyte extracellular signaling in Costello syndrome.

Published in:

Science Translational Medicine, 2015, v. 7, n. 286, p. 1, doi. 10.1126/scitranslmed.aaa5645

By:

Krencik, Robert;
Hokanson, Kenton C.;
Narayan, Aditi R.;
Dvornik, Jill;
Rooney, Gemma E.;
Rauen, Katherine A.;
Weiss, Lauren A.;
Rowitch, David H.;
Ullian, Erik M.

Publication type:

Article

Costello syndrome: Analysis of the posterior cranial fossa in children with posterior fossa crowding.

Published in:

Neuroradiology Journal, 2015, v. 28, n. 3, p. 254, doi. 10.1177/1971400915592549

By:

Calandrelli, Rosalinda;
D’Apolito, Gabriella;
Marco, Panfili;
Zampino, Giuseppe;
Tartaglione, Tommaso;
Colosimo, Cesare

Publication type:

Article

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.

Published in:

2020

By:

Schøler Nørgaard, M.;
Mogra, R.;
Pinner, J.;
Kagan, K. O.;
Warming Jørgensen, M.;
Gjørup, V.;
Petersen, O. B.;
Sandager, P.;
Vogel, I.

Publication type:

Letter

EP05.10: Doppler assessment of hypertrophic cardiomyopathy in a case of Costello syndrome.

Published in:

2016

By:

Kurihara, Y.;
Tachibana, D.;
Uemura, R.;
Yokoi, N.W.;
Pooh, R.K.;
Kenji, F.;
Kawauchi, Y.;
Mika, S.;
Suzuki, T.;
Murakami, Y.;
Yaoita, M.;
Aoki, Y.;
Koyama, M.

Publication type:

journal article

'Cobblestone' papillomatous linear papules of the upper lip: a new sign of Costello syndrome.

Published in:

British Journal of Dermatology, 2013, v. 168, n. 4, p. 903, doi. 10.1111/bjd.12103

By:

Pernet, C.;
Baumann, C.;
Cavé, H.;
Guillot, B.;
Bessis, D.

Publication type:

Article

Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.

Published in:

British Journal of Dermatology, 2012, v. 166, n. 3, p. 601, doi. 10.1111/j.1365-2133.2011.10744.x

By:

Siegel, D.H.;
Mann, J.A.;
Krol, A.L.;
Rauen, K.A.

Publication type:

Article

Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.

Published in:

2017

By:

Sánchez-Montenegro, Carlos;
Vilanova-Sánchez, Alejandra;
Barrena-Delfa, Saturnino;
Tenorio, Jair;
Santos-Simarro, Fernando;
García-Miñaur, Sixto;
Lapunzina, Pablo;
Martínez-Martínez, Leopoldo

Publication type:

Case Study

In vivo synaptic transmission and morphology in mouse models of Tuberous sclerosis, Fragile X syndrome, Neurofibromatosis type 1, and Costello syndrome.

Published in:

Frontiers in Cellular Neuroscience, 2015, v. 9, p. 1, doi. 10.3389/fncel.2015.00234

By:

Tiantian Wang;
de Kok, Laura;
Willemsen, Rob;
Elgersma, Ype;
Borst, J. Gerard G.

Publication type:

Article

Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome.

Published in:

International Journal of Molecular Sciences, 2016, v. 17, n. 6, p. 952, doi. 10.3390/ijms17060952

By:

Mucciolo, Mafalda;
Russo, Claudio Dello;
D'Emidio, Laura;
Mesoraca, Alvaro;
Giorlandino, Claudio

Publication type:

Article

Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras.

Published in:

PLoS Genetics, 2019, v. 15, n. 5, p. 1, doi. 10.1371/journal.pgen.1008139

By:

Yamada, Makiko;
Cai, Winson;
Martin, Laura A.;
N’Tumba-Byn, Thierry;
Seandel, Marco

Publication type:

Article

Prenatal Diagnosis of Costello Syndrome Using Noninvasive Prenatal Single Gene Testing With Maternal Blood.

Published in:

Journal of Neonatology, 2023, v. 37, n. 4, p. 390, doi. 10.1177/09732179231173258

By:

M., Suner;
A., Pitchika;
G., Szuhay;
P., Ankola

Publication type:

Article

Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.

Published in:

British Journal of Cancer, 2015, v. 112, n. 8, p. 1392, doi. 10.1038/bjc.2015.75

By:

Kratz, C P;
Franke, L;
Peters, H;
Kohlschmidt, N;
Kazmierczak, B;
Finckh, U;
Bier, A;
Eichhorn, B;
Blank, C;
Kraus, C;
Kohlhase, J;
Pauli, S;
Wildhardt, G;
Kutsche, K;
Auber, B;
Christmann, A;
Bachmann, N;
Mitter, D;
Cremer, F W;
Mayer, K

Publication type:

Article