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Select item 109303011.

BRAF基因突变所致心-面-皮肤综合征1例并文献复习

陈柏谕, 陈施梦, 熊娟, 尹飞

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28; 46(4): 432–437. Chinese. doi: 10.11817/j.issn.1672-7347.2021.190756

PMCID:: PMC10930301

Abstract Article PDF–1011K

Select item 108393402.

Status epilepticus in BRAF‐related cardio‐facio‐cutaneous syndrome: Focus on neuroimaging clues to physiopathology

Elisa Musto, Maria Luigia Gambardella, Marco Perulli, Michela Quintiliani, Chiara Veredice, Tommaso Verdolotti, Giovanna Berté, Chiara Leoni, Roberta Onesimo, Silvia Maria Pulitanò, Marco Tartaglia, Giuseppe Zampino, Ilaria Contaldo, Domenica Immacolata Battaglia

Epilepsia Open. 2024 Feb; 9(1): 258–267. Published online 2023 Dec 20. doi: 10.1002/epi4.12864

PMCID:: PMC10839340

Abstract Article PDF–4.3M

Select item 107427203.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications

Giovanna Scorrano, Emanuele David, Elisa Calì, Roberto Chimenz, Saverio La Bella, Armando Di Ludovico, Gabriella Di Rosa, Eloisa Gitto, Kshitij Mankad, Rosaria Nardello, Giuseppe Donato Mangano, Chiara Leoni, Giorgia Ceravolo

Genes (Basel) 2023 Dec; 14(12): 2111. Published online 2023 Nov 22. doi: 10.3390/genes14122111

PMCID:: PMC10742720

Abstract Article PDF–3.6M

Select item 106418034.

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes

Anna Papadopoulou, Evangelia Bountouvi

Front Endocrinol (Lausanne) 2023; 14: 1231828. Published online 2023 Oct 27. doi: 10.3389/fendo.2023.1231828

PMCID:: PMC10641803

Abstract Article PDF–550K

Select item 105912495.

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report

Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar

Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322

PMCID:: PMC10591249

Abstract Article PDF–763K

Select item 105826936.

Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome

Flavia Costanza, Giampaolo Papi, Stefania Corrado, Alfredo Pontecorvi

Front Endocrinol (Lausanne) 2023; 14: 1243540. Published online 2023 Oct 4. doi: 10.3389/fendo.2023.1243540

PMCID:: PMC10582693

Abstract Article PDF–2.2M

Select item 104963097.

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients

Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-en Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wang

Orphanet J Rare Dis. 2023; 18: 284. Published online 2023 Sep 11. doi: 10.1186/s13023-023-02878-0

PMCID:: PMC10496309

Abstract Article PDF–1.7M

Select item 104506728.

Evolutionary history of MEK1 illuminates the nature of deleterious mutations

Ekaterina P. Andrianova, Robert A. Marmion, Stanislav Y. Shvartsman, Igor B. Zhulin

Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2304184120. Published online 2023 Aug 14. doi: 10.1073/pnas.2304184120

PMCID:: PMC10450672

Abstract Article PDF–3.7M

Select item 102866439.

Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier

Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969

PMCID:: PMC10286643

Abstract Article PDF–1.6M

Select item 983947910.

Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation

Angie C. Jelin, Amanda Mahle, Susan H. Tran, Teresa N. Sparks, Katherine A. Rauen

Am J Med Genet A. Author manuscript; available in PMC 2024 Feb 1.

Published in final edited form as: Am J Med Genet A. 2023 Feb; 191(2): 323–331. Published online 2022 Oct 29. doi: 10.1002/ajmg.a.63020

PMCID:: PMC9839479

Abstract Article PDF–241K

Select item 948239411.

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene

Mirella Vinci, Petri Kursula, Donatella Greco, Maurizio Elia, Luigi Vetri, Carmelo Schepis, Valeria Chiavetta, Serena Donadio, Michele Roccella, Marco Carotenuto, Valentino Romano, Francesco Calì

Mol Genet Genomic Med. 2022 Sep; 10(9): e2012. Published online 2022 Jul 5. doi: 10.1002/mgg3.2012

PMCID:: PMC9482394

Abstract Article PDF–2.2M

Select item 906978812.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene

Gregorio Serra, Sofia Felice, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Ettore Piro, Giovanni Corsello

Ital J Pediatr. 2022; 48: 65. Published online 2022 May 4. doi: 10.1186/s13052-022-01241-6

PMCID:: PMC9069788

Abstract Article PDF–1.1M

Select item 884826513.

Cardiofaciocutaneous syndrome – a longitudinal study of a case over 33 years: case report and review of the literature

Maria Claudia Jurcă, Oana Alexandra Iuhas, Maria Puiu, Adela Chiriţă-Emandi, Nicoleta Ioana Andreescu, Codruţa Diana Petcheşi, Alexandru Daniel Jurcă, Ioan Magyar, Sânziana Iulia Jurcă, Kinga Kozma, Emilia Maria Severin, Marius Bembea

Rom J Morphol Embryol. 2021 Apr-Jun; 62(2): 563–568. Published online 2021 Dec 21. doi: 10.47162/RJME.62.2.23

PMCID:: PMC8848265

Abstract Article PDF–743K

Select item 821542514.

Murine Model of Cardiac Defects Observed in Adams-Oliver Syndrome Driven by Delta-Like Ligand-4 Haploinsufficiency

Prashan De Zoysa, Omar Toubat, Drayton Harvey, Jongkyu Choi, S. Ram Kumar

Stem Cells Dev. June 15, 2021; 30(12): 611–621. Published online 2021 Jun 8. doi: 10.1089/scd.2021.0058

PMCID:: PMC8215425

Abstract Article PDF–3.4M

Select item 801690215.

Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans

Angelica Gualtieri, Nikolina Kyprianou, Louise C. Gregory, Maria Lillina Vignola, James G. Nicholson, Rachael Tan, Shin-ichi Inoue, Valeria Scagliotti, Pedro Casado, James Blackburn, Fernando Abollo-Jimenez, Eugenia Marinelli, Rachael E. J. Besser, Wolfgang Högler, I. Karen Temple, Justin H. Davies, Andrey Gagunashvili, Iain C.A.F. Robinson, Sally A. Camper, Shannon W. Davis, Pedro R. Cutillas, Evelien F. Gevers, Yoko Aoki, Mehul T. Dattani, Carles Gaston-Massuet

Nat Commun. 2021; 12: 2028. Published online 2021 Apr 1. doi: 10.1038/s41467-021-21712-4

PMCID:: PMC8016902

Abstract Article PDF–15M

Select item 782155316.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status

Chiara Leoni, Domenico Marco Romeo, Michele Pelliccioni, Mariangela Di Già, Roberta Onesimo, Valentina Giorgio, Elisabetta Flex, Marta Tedesco, Marco Tartaglia, Donato Rigante, Antonio Valassina, Giuseppe Zampino

Orphanet J Rare Dis. 2021; 16: 43. Published online 2021 Jan 22. doi: 10.1186/s13023-021-01674-y

PMCID:: PMC7821553

Abstract Article PDF–1.1M

Select item 767500217.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C. Aoto, Erik M.F. Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S. Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F. Bennett, Amy L. Schneider, Ingrid E. Scheffer, Maria Kibæk, Britta S. Kristiansen, Mahmoud Y. Issa, Mennat I. Mehrez, Samira Ismail, Jair Tenorio, Gaoyang Li, Bjørn Steen Skålhegg, Ghada A. Otaify, Samia Temtamy, Mona Aglan, Aia E. Jønch, Alessandro De Luca, Geert Mortier, Valérie Cormier-Daire, Alban Ziegler, Mathew Wallis, Pablo Lapunzina, Friedrich W. Herberg, Susan S. Taylor, Victor L. Ruiz-Perez

Am J Hum Genet. 2020 Nov 5; 107(5): 977–988. Published online 2020 Oct 14. doi: 10.1016/j.ajhg.2020.09.005

PMCID:: PMC7675002

Abstract Article PDF–3.0M

Select item 745649818.

Advancing RAS/RASopathy Therapies (ART): An NCI-sponsored Intramural and Extramural Collaboration for the study of RASopathies

Andrea M. Gross, Megan Frone, Karen W. Gripp, Bruce D. Gelb, Lisa Schoyer, Lisa Schill, Beth Stronach, Leslie G. Biesecker, Dominic Esposito, Edjay Ralph Hernandez, Eric Legius, Mignon L. Loh, Staci Martin, Deborah K. Morrison, Katherine A. Rauen, Pamela L. Wolters, Dina Zand, Frank McCormick, Sharon A. Savage, Douglas R. Stewart, Brigitte C. Widemann, Marielle E. Yohe

Am J Med Genet A. Author manuscript; available in PMC 2020 Aug 30.

Published in final edited form as: Am J Med Genet A. 2020 Apr; 182(4): 866–876. Published online 2020 Jan 8. doi: 10.1002/ajmg.a.61485

PMCID:: PMC7456498

Abstract Article PDF–215K

Select item 708312319.

Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome

Yoshiki Shionoya, Maki Yamamoto, Katsuhisa Sunada, Kiminari Nakamura

Anesth Prog. 2020 Spring; 67(1): 45–47. doi: 10.2344/anpr-67-01-07

PMCID:: PMC7083123

Abstract Article PDF–83K

Select item 702749620.

Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?

Francesca Bardi, Pien Bosschieter, Joke Verheij, Attie Go, Monique Haak, Mireille Bekker, Esther Sikkel, Audrey Coumans, Eva Pajkrt, Caterina Bilardo

Prenat Diagn. 2020 Jan; 40(2): 197–205. Published online 2019 Nov 27. doi: 10.1002/pd.5590

PMCID:: PMC7027496

Abstract Article PDF–1.8M

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