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Select item 62931401.

Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia‐lymphedema syndrome‐1

Dora J. Melber, Tara S. Andreasen, Rong Mao, Tatiana Tvrdik, Christine E. Miller, Thomas R. Moore, Douglas A. Woelkers, Leah M. Lamale‐Smith

Clin Case Rep. 2018 Dec; 6(12): 2358–2363. Published online 2018 Oct 24. doi: 10.1002/ccr3.1804

PMCID:: PMC6293140

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Select item 100819202.

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

Philip M. Boone, Scott Paterson, Kiana Mohajeri, Wenmiao Zhu, Casie A. Genetti, Derek J. C. Tai, Neeharika Nori, Pankaj B. Agrawal, Carlos A. Bacino, Weimin Bi, Michael E. Talkowski, Benjamin M. Hogan, Lance H. Rodan

Am J Med Genet A. Author manuscript; available in PMC 2023 Apr 7.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 189–194. Published online 2019 Oct 21. doi: 10.1002/ajmg.a.61392

PMCID:: PMC10081920

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Select item 82115293.

Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis

Khyber Shinwari, Liu Guojun, Svetlana S. Deryabina, Mikhail A. Bolkov, Irina A. Tuzankina, Valery A. Chereshnev

ScientificWorldJournal. 2021; 2021: 6642626. Published online 2021 Jun 10. doi: 10.1155/2021/6642626

PMCID:: PMC8211529

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Select item 58522244.

Hennekam Syndrome: A Case Report

Yeong Guk Lee, Seung Chan Kim, Si-Bog Park, Mi Jung Kim

Ann Rehabil Med. 2018 Feb; 42(1): 184–188. Published online 2018 Feb 28. doi: 10.5535/arm.2018.42.1.184

PMCID:: PMC5852224

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Select item 73375365.

Intestinal lymphangiectasia in a 3-month-old girl: A case report of Hennekam syndrome caused by CCBE1 mutation

Antonella Fattorusso, Elena Sofia Pieri, Giovanni Battista Dell’Isola, Paolo Prontera, Elisabetta Mencaroni, Gabriela Stangoni, Susanna Esposito

Medicine (Baltimore) 2020 Jul 2; 99(27): e20995. Published online 2020 Jul 2. doi: 10.1097/MD.0000000000020995

PMCID:: PMC7337536

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Select item 62976926.

An approach to familial lymphoedema

Gabriela E Jones, Sahar Mansour

Clin Med (Lond) 2017 Dec; 17(6): 552–557. doi: 10.7861/clinmedicine.17-6-552

PMCID:: PMC6297692

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Select item 49842687.

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression

Carolyn C. Jackson, Lucy Best, Lazaro Lorenzo, Jean-Laurent Casanova, Jochen Wacker, Simone Bertz, Abbas Agaimy, Thomas Harrer

J Clin Immunol. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Clin Immunol. 2016 Jan; 36(1): 19–27. Published online 2015 Dec 19. doi: 10.1007/s10875-015-0225-6

PMCID:: PMC4984268

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Select item 46308438.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman, Jeremy Schwartzentruber, Jacek Majewski, FORGE Canada Consortium, Cheryl Rockman-Greenberg

BMC Med Genet. 2015; 16: 28. Published online 2015 Apr 30. doi: 10.1186/s12881-015-0175-0

PMCID:: PMC4630843

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Select item 45683169.

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Elisavet Fotiou, Silvia Martin-Almedina, Michael A. Simpson, Shin Lin, Kristiana Gordon, Glen Brice, Giles Atton, Iona Jeffery, David C. Rees, Cyril Mignot, Julie Vogt, Tessa Homfray, Michael P. Snyder, Stanley G. Rockson, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Pia Ostergaard

Nat Commun. 2015; 6: 8085. Published online 2015 Sep 3. doi: 10.1038/ncomms9085

Correction in:: Nat Commun. 2019; 10: 1951.

PMCID:: PMC4568316

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Select item 378439610.

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

Sohela Shah, Laura K. Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A. S. Knisely, Michael T. Mennuti, Randolph P. Matthews, Nancy B. Spinner, Laura N. Bull

PLoS One. 2013; 8(9): e75770. Published online 2013 Sep 26. doi: 10.1371/journal.pone.0075770

PMCID:: PMC3784396

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Select item 350178511.

Octreotide in Hennekam syndrome-associated intestinal lymphangiectasia

Siham Al Sinani, Yusria Al Rawahi, Hamed Abdoon

World J Gastroenterol. 2012 Nov 21; 18(43): 6333–6337. Published online 2012 Nov 21. doi: 10.3748/wjg.v18.i43.6333

PMCID:: PMC3501785

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Select item 981108812.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

Sahar Mansour, Katherine S Josephs, Pia Ostergaard, Kristiana Gordon, Malou Van Zanten, Julian Pearce, Steve Jeffery, Vaughan Keeley, Katie Riches, Alexander Kreuter, Ulrike Wieland, René Hägerling, Lakshmi Ratnam, Ege Sackey, Dionysios Grigoriadis, Bernard Ho, Frances Smith, Elisabeth Rauter, Peter Mortimer, Derek Macallan

J Med Genet. 2023 Jan; 60(1): 84–90. Published online 2021 Dec 16. doi: 10.1136/jmedgenet-2021-107820

PMCID:: PMC9811088

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Select item 851359413.

Generation of Pulmonary Endothelial Progenitor Cells for Cell-based Therapy Using Interspecies Mouse–Rat Chimeras

Guolun Wang, Bingqiang Wen, Xiaomeng Ren, Enhong Li, Yufang Zhang, Minzhe Guo, Yan Xu, Jeffrey A. Whitsett, Tanya V. Kalin, Vladimir V. Kalinichenko

Am J Respir Crit Care Med. 2021 Aug; 204(3): 326–338. Published online 2021 Mar 30. doi: 10.1164/rccm.202003-0758OC

PMCID:: PMC8513594

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Select item 842137414.

Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations

Jinyuan Vero Li, Chai-Ann Ng, Delfine Cheng, Zijing Zhou, Mingxi Yao, Yang Guo, Ze-Yan Yu, Yogambha Ramaswamy, Lining Arnold Ju, Philip W. Kuchel, Michael P. Feneley, Diane Fatkin, Charles D. Cox

Commun Biol. 2021; 4: 1038. Published online 2021 Sep 6. doi: 10.1038/s42003-021-02528-w

PMCID:: PMC8421374

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Select item 752577615.

Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Kristiana Gordon, Ruth Varney, Vaughan Keeley, Katie Riches, Steve Jeffery, Malou Van Zanten, Peter Mortimer, Pia Ostergaard, Sahar Mansour

J Med Genet. 2020 Oct; 57(10): 653–659. Published online 2020 May 14. doi: 10.1136/jmedgenet-2019-106084

PMCID:: PMC7525776

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Select item 726002516.

Atypical cadherin FAT4 orchestrates lymphatic endothelial cell polarity in response to flow

Kelly L. Betterman, Drew L. Sutton, Genevieve A. Secker, Jan Kazenwadel, Anna Oszmiana, Lillian Lim, Naoyuki Miura, Lydia Sorokin, Benjamin M. Hogan, Mark L. Kahn, Helen McNeill, Natasha L. Harvey

J Clin Invest. 2020 Jun 1; 130(6): 3315–3328. Published online 2020 May 18. doi: 10.1172/JCI99027

PMCID:: PMC7260025

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Select item 701751917.

A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy

Na Wang, Wen Shi, Yang Jiao

BMC Gastroenterol. 2020; 20: 34. Published online 2020 Feb 13. doi: 10.1186/s12876-020-01187-1

PMCID:: PMC7017519

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Select item 650901618.

Nonimmune hydrops fetalis: identifying the underlying genetic etiology

Teresa N. Sparks, Kao Thao, Billie R. Lianoglou, Nina M. Boe, Kari G. Bruce, Ilina Datkhaeva, Nancy T. Field, Victoria M. Fratto, Jennifer Jolley, Louise C. Laurent, Anne H. Mardy, Aisling M. Murphy, Emily Ngan, Naseem Rangwala, Catherine A. M. Rottkamp, Lisa Wilson, Erica Wu, Cherry C. Uy, Priscila Valdez Lopez, Mary E. Norton

Genet Med. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Genet Med. 2019 Jun; 21(6): 1339–1344. Published online 2018 Nov 9. doi: 10.1038/s41436-018-0352-6

PMCID:: PMC6509016

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Select item 585188119.

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

Silvia Martin‐Almedina, Sahar Mansour, Pia Ostergaard

J Physiol. 2018 Mar 15; 596(6): 985–992. Published online 2018 Jan 31. doi: 10.1113/JP275718

PMCID:: PMC5851881

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Select item 541699220.

The Glucocorticoid-Induced Leucine Zipper (Gilz/Tsc22d3-2) Gene Locus Plays a Crucial Role in Male Fertility

Philippe Emmanuel Suarez, Elena Gonzalez Rodriguez, Rama Soundararajan, Anne-Marie Mérillat, Jean-Christophe Stehle, Samuel Rotman, Thierry Roger, Marie-Jeanne Voirol, Jian Wang, Olaf Gross, Virginie Pétrilli, Karim Nadra, Anne Wilson, Friedrich Beermann, François Pierre Pralong, Marc Maillard, David Pearce, Roman Chrast, Bernard Claude Rossier, Edith Hummler

Mol Endocrinol. June 1, 2012; 26(6): 1000–1013. Published online 2012 May 3. doi: 10.1210/me.2011-1249

PMCID:: PMC5416992

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