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Select item 14678641.

The proliferative status of haematopoietic progenitor cells in the developing murine liver and adult bone marrow

A. BLAIR, D. B. THOMAS

J Anat. 1998 Oct; 193(Pt 3): 443–447. doi: 10.1046/j.1469-7580.1998.19330443.x

PMCID:: PMC1467864

Summary PDF–189K

Select item 109662282.

Natural history and outcomes in paediatric RASopathy‐associated hypertrophic cardiomyopathy

Olga Boleti, Gabrielle Norrish, Ella Field, Kathleen Dady, Kim Summers, Gauri Nepali, Vinay Bhole, Orhan Uzun, Amos Wong, Piers E. F. Daubeney, Graham Stuart, Precylia Fernandes, Karen McLeod, Maria Ilina, Muhammad Najih Liaqath Ali, Tara Bharucha, Grazia Delle Donne, Elspeth Brown, Katie Linter, Caroline B. Jones, Jonathan Searle, William Regan, Sujeev Mathur, Nicola Boyd, Zdenka Reinhardt, Sophie Duignan, Terence Prendiville, Satish Adwani, Juan Pablo Kaski

ESC Heart Fail. 2024 Apr; 11(2): 923–936. Published online 2024 Jan 13. doi: 10.1002/ehf2.14637

PMCID:: PMC10966228

Abstract Article PDF–751K

Select item 51671683.

Second generation noninvasive fetal genome analysis reveals de novo mutations, single-base parental inheritance, and preferred DNA ends

K. C. Allen Chan, Peiyong Jiang, Kun Sun, Yvonne K. Y. Cheng, Yu K. Tong, Suk Hang Cheng, Ada I. C. Wong, Irena Hudecova, Tak Y. Leung, Rossa W. K. Chiu, Yuk Ming Dennis Lo

Proc Natl Acad Sci U S A. 2016 Dec 13; 113(50): E8159–E8168. Published online 2016 Oct 31. doi: 10.1073/pnas.1615800113

PMCID:: PMC5167168

Abstract Article PDF–1.3M

Select item 44808714.

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

Małgorzata J.M. Nowaczyk, Brandi A. Thompson, Susan Zeesman, Ute Moog, Pedro A. Sanchez-Lara, Pilar L. Magoulas, Rena E. Falk, Julie Hoover Fong, Denise A.S. Batista, Shivarajan M. Amudhavalli, Sue M. White, Gail E. Graham, Katherine A. Rauen

Clin Genet. Author manuscript; available in PMC 2015 Jun 25.

Published in final edited form as: Clin Genet. 2014 Feb; 85(2): 138–146. Published online 2013 Apr 2. doi: 10.1111/cge.12116

PMCID:: PMC4480871

Abstract Article PDF–485K

Select item 44024575.

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

C P Kratz, L Franke, H Peters, N Kohlschmidt, B Kazmierczak, U Finckh, A Bier, B Eichhorn, C Blank, C Kraus, J Kohlhase, S Pauli, G Wildhardt, K Kutsche, B Auber, A Christmann, N Bachmann, D Mitter, F W Cremer, K Mayer, C Daumer-Haas, C Nevinny-Stickel-Hinzpeter, F Oeffner, G Schlüter, M Gencik, B Überlacker, C Lissewski, I Schanze, M H Greene, C Spix, M Zenker

Br J Cancer. 2015 Apr 14; 112(8): 1392–1397. Published online 2015 Mar 5. doi: 10.1038/bjc.2015.75

PMCID:: PMC4402457

Abstract Article PDF–142K

Select item 43267246.

Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes

Ana Justino, Patrícia Dias, Maria João Pina, Sónia Sousa, Luís Cirnes, Ana Berta Sousa, José Carlos Machado, José Luis Costa

Eur J Hum Genet. 2015 Mar; 23(3): 347–353. Published online 2014 Jun 4. doi: 10.1038/ejhg.2014.97

PMCID:: PMC4326724

Abstract Article PDF–1.1M

Select item 41458167.

Costello and Cardio-Facio-Cutaneous Syndromes: Moving Toward Clinical Trials in RASopathies

KATHERINE A. RAUEN, ANURADHA BANERJEE, W. ROBERT BISHOP, JENNIFER O. LAUCHLE, FRANK MCCORMICK, MARTIN MCMAHON, TERI MELESE, PAMELA N. MUNSTER, SORENA NADAF, ROGER J. PACKER, JUDITH SEBOLT-LEOPOLD, DAVID H. VISKOCHIL

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2014 Aug 27.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 0(2): 136–146. Published online 2011 Apr 14. doi: 10.1002/ajmg.c.30294

PMCID:: PMC4145816

Abstract Article PDF–216K

Select item 41156728.

Craniofacial and Dental Development in Cardio-facio-cutaneous Syndrome: The Importance of Ras Signaling Homeostasis

Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica Groth, Anna Martinez, Cecilia Fairley, Lauren A. Weiss, William E. Tidyman, Ophir D. Klein, Katherine A. Rauen

Clin Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: Clin Genet. 2013 Jun; 83(6): 539–544. Published online 2012 Sep 27. doi: 10.1111/cge.12005

PMCID:: PMC4115672

Abstract Article PDF–260K

Select item 40635529.

Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome

D.H. Siegel, J. McKenzie, I.J. Frieden, K.A. Rauen

Br J Dermatol. Author manuscript; available in PMC 2014 Jun 19.

Published in final edited form as: Br J Dermatol. 2011 Mar; 164(3): 521–529. Published online 2011 Jan 28. doi: 10.1111/j.1365-2133.2010.10122.x

PMCID:: PMC4063552

Abstract Article PDF–983K

Select item 391503110.

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni, Bruno Dallapiccola

BMC Med Genet. 2014; 15: 14. Published online 2014 Jan 23. doi: 10.1186/1471-2350-15-14

PMCID:: PMC3915031

Abstract Article PDF–2.0M

Select item 362597511.

Human CoQ₁₀ deficiencies

CM Quinzii, LC Lopez, A Naini, S DiMauro, M Hirano

Biofactors. Author manuscript; available in PMC 2013 Apr 15.

Published in final edited form as: Biofactors. 2008; 32(0): 113–118. doi: 10.1002/biof.5520320113

PMCID:: PMC3625975

Abstract Article PDF–629K

Select item 311728412.

Germline KRAS Mutations Cause Aberrant Biochemical and Physical Properties Leading to Developmental Disorders

Lothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, Ion C. Cirstea, Christian Peter Kratz, Martin Zenker, Alfred Wittinghofer, Mohammad Reza Ahmadian

Hum Mutat. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: Hum Mutat. 2011 Jan; 32(1): 33–43. Published online 2010 Dec 9. doi: 10.1002/humu.21377

PMCID:: PMC3117284

Abstract Article PDF–1.8M

Select item 308618313.

Cancer in Noonan, Costello, Cardiofaciocutaneous and LEOPARD Syndromes

Christian P. Kratz, Suthee Rapisuwon, Helen Reed, Henrik Hasle, Philip S. Rosenberg

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2012 May 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 83–89. Published online 2011 Apr 15. doi: 10.1002/ajmg.c.30300

PMCID:: PMC3086183

Abstract Article PDF–228K

Select item 308609514.

Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

Judith E Allanson, Göran Annerén, Yoki Aoki, Christine M Armour, Marie-Louise Bondeson, Helene Cave, Karen W Gripp, Bronwyn Kerr, Anna-Maja Nystrom, Katia Sol-Church, Alain Verloes, Martin Zenker

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2012 May 15.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 May 15; 157(2): 129–135. Published online 2011 Apr 14. doi: 10.1002/ajmg.c.30295

PMCID:: PMC3086095

Abstract Article PDF–317K

Select item 308598315.

Effects of Germline Mutations in the Ras/MAPK Signaling Pathway on Adaptive Behavior: Cardiofaciocutaneous Syndrome and Noonan Syndrome

Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog-Dube, Katherine A. Rauen, Mark S. Seidenberg

Am J Med Genet A. Author manuscript; available in PMC 2011 May 3.

Published in final edited form as: Am J Med Genet A. 2010 Mar; 152A(3): 591–600. doi: 10.1002/ajmg.a.33268

PMCID:: PMC3085983

Abstract Article PDF–585K

Select item 305819916.

Noonan syndrome and clinically related disorders

Marco Tartaglia, Bruce D. Gelb, Martin Zenker

Best Pract Res Clin Endocrinol Metab. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Best Pract Res Clin Endocrinol Metab. 2011 Feb; 25(1): 161–179. doi: 10.1016/j.beem.2010.09.002

PMCID:: PMC3058199

Abstract Article PDF–801K

Select item 256318017.

The cardiofaciocutaneous syndrome

A Roberts, J Allanson, S K Jadico, M I Kavamura, J Noonan, J M Opitz, T Young, G Neri

J Med Genet. 2006 Nov; 43(11): 833–842. Published online 2006 Jul 6. doi: 10.1136/jmg.2006.042796

PMCID:: PMC2563180

Abstract Article PDF–1.3M

Select item 216915418.

Biochemical and Functional Characterization of Germ Line KRAS Mutations

Suzanne Schubbert, Gideon Bollag, Natalya Lyubynska, Hoa Nguyen, Christian P. Kratz, Martin Zenker, Charlotte M. Niemeyer, Anders Molven, Kevin Shannon

Mol Cell Biol. 2007 Nov; 27(22): 7765–7770. Published online 2007 Sep 17. doi: 10.1128/MCB.00965-07

PMCID:: PMC2169154

Abstract Article PDF–251K

Select item 886274119.

The RASopathies: from pathogenetics to therapeutics

Katie E. Hebron, Edjay Ralph Hernandez, Marielle E. Yohe

Dis Model Mech. 2022 Feb 1; 15(2): dmm049107. Published online 2022 Feb 18. doi: 10.1242/dmm.049107

PMCID:: PMC8862741

Abstract Article

Select item 1083934020.

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

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