| Ident. | Authors (with country if any) | Title |
|---|
| 000049 (2017) |
Abderrazzak El Saqui [Maroc] ; Mohamed Aggouri [Maroc] ; Mohamed Benzagmout [Maroc] ; Khalid Chakour [Maroc] ; Mohamed El Faiz Chaoui [Maroc] | Une cause rare de compression médullaire: kyste arachnoïdien épidural rachidien (à propos de 03 cas) |
| 000456 (2017) |
Steven M. Dean [États-Unis] ; Benjamin H. Kaffenberger [États-Unis] ; Mark E. Lustberg [États-Unis] | Kaposi sarcoma: An unconventional cause of lower extremity lymphedema. |
| 000F25 (2016) |
Huan Hu [République populaire de Chine] ; Xueshan Xiao [République populaire de Chine] ; Shiqiang Li [République populaire de Chine] ; Xiaoyun Jia [République populaire de Chine] ; Xiangming Guo [République populaire de Chine] ; Qingjiong Zhang [République populaire de Chine] | KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. |
| 001046 (2016) |
Toshiki Takenouchi [Japon] ; Nobuhiko Okamoto [Japon] ; Shinobu Ida [Japon] ; Tomoko Uehara [Japon] ; Kenjiro Kosaki [Japon] | Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia. |
| 001499 (2016) |
Gianluca Caridi [Italie] ; Elif Yilmaz Gulec [Turquie] ; Monica Campagnoli [Italie] ; Francesca Lugani [Italie] ; Hasan Onal [Turquie] ; Duzgun Kilic [Turquie] ; Monica Galliano [Italie] ; Lorenzo Minchiotti [Italie] | A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family |
| 001F46 (2015) |
Waldemar L. Olszewski ; Marzanna Zaleska ; Ewa Stelmach ; Ewa Swoboda-Kopec ; Pradeep Jain ; Karoon Agrawal ; Sashi Gogia ; Arun Gogia ; Piotr Andziak ; Marek Durlik | Cryptic Bacteria of Lower Limb Deep Tissues as a Possible Cause of Inflammatory and Necrotic Changes in Ischemia, Venous Stasis and Varices, and Lymphedema |
| 002186 (2015) |
Viviana Cordeddu [Italie] ; Jiani C. Yin [Canada] ; Cecilia Gunnarsson [Suède] ; Carl Virtanen [Canada] ; Séverine Drunat [France] ; Francesca Lepri [Italie] ; Alessandro De Luca [Italie] ; Cesare Rossi [Italie] ; Andrea Ciolfi [Italie] ; Trevor J. Pugh [Canada] ; Alessandro Bruselles [Italie] ; James R. Priest [États-Unis] ; Len A. Pennacchio [États-Unis] ; Zhibin Lu [Canada] ; Arnavaz Danesh [Canada] ; Rene Quevedo [Canada] ; Alaa Hamid [Canada] ; Simone Martinelli [Italie] ; Francesca Pantaleoni [Italie] ; Maria Gnazzo [Italie] ; Paola Daniele [Italie] ; Christina Lissewski [Allemagne] ; Gianfranco Bocchinfuso [Italie] ; Lorenzo Stella [Italie] ; Sylvie Odent [France] ; Nicole Philip [France] ; Laurence Faivre [France] ; Marketa Vlckova [République tchèque] ; Eva Seemanova [République tchèque] ; Cristina Digilio [Italie] ; Martin Zenker [Allemagne] ; Giuseppe Zampino [Italie] ; Alain Verloes [France] ; Bruno Dallapiccola [Italie] ; Amy E. Roberts [États-Unis] ; Hélène Cavé [France] ; Bruce D. Gelb [États-Unis] ; Benjamin G. Neel [Canada, États-Unis] ; Marco Tartaglia [Italie] | Activating mutations affecting the Dbl homology domain of SOS2 cause Noonan syndrome |
| 002A31 (2014) |
Imane Elmansour ; Soumia Chiheb ; Hakima Benchikhi | Hennekam syndrome: a rare cause of primary lymphedema. |
| 002A32 (2014) |
Shailendra Kapoor | Hennekam syndrome: a rare and often ignored cause of intestinal lymphangiectasia. |
| 002E17 (2014) |
Meghan Aversa ; Sacha Bhinder ; Jeffrey Tanguay ; John Thenganatt | A rare cause of hemoptysis |
| 002F65 (2013) |
H. Frank [Allemagne] ; W. Weiss | [A rare cause of edema: sporadic lymphangioleiomyomatosis]. |
| 003371 (2013) |
Karine Poirier [France] ; Nicolas Lebrun [France] ; Loic Broix [France] ; Guoling Tian [États-Unis] ; Yoann Saillour [France] ; Cécile Boscheron [France] ; Elena Parrini [Italie] ; Stephanie Valence [France] ; Benjamin Saintpierre [France] ; Madison Oger [France] ; Didier Lacombe [France] ; David Geneviève [France] ; Elena Fontana [Italie] ; Franscesca Darra [Italie] ; Claude Cances [France] ; Magalie Barth [France] ; Dominique Bonneau [France] ; Bernardo Dalla Bernadina [Italie] ; Sylvie N Uyen [France] ; Cyril Gitiaux [France] ; Philippe Parent [France] ; Vincent Des Portes [France] ; Jean Michel Pedespan [France] ; Victoire Legrez [France] ; Laetitia Castelnau-Ptakine [France] ; Patrick Nitschke [France] ; Thierry Hieu [France] ; Cecile Masson [France] ; Diana Zelenika [France] ; Annie Andrieux [France] ; Fiona Francis [France] ; Renzo Guerrini [Italie] ; Nicholas J. Cowan [États-Unis] ; Nadia Bahi-Buisson [France] ; Jamel Chelly [France] | Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly |
| 003461 (2013) |
Liza Rajasekhar ; Shabina Habibi ; Pushpalatha Sudhakar ; Narsimulu Gumdal | Lymphatic obstruction as a cause of extremity edema in systemic lupus erythematosus. |
| 003632 (2013) |
Cameron F. Parsa | Focal Venous Hypertension as a Pathophysiologic Mechanism for Tissue Hypertrophy, Port-Wine Stains, the Sturge-Weber Syndrome, and Related Disorders: Proof of Concept with Novel Hypothesis for Underlying Etiological Cause (An American Ophthalmological Society Thesis) |
| 003839 (2013) |
Anders Klit [Danemark] ; Mathias Kvist Mejdahl ; Rune G Rtner ; Jens J Rgen Elberg ; Niels Kroman ; Kenneth Geving Andersen | Breast reconstruction with an expander prosthesis following mastectomy does not cause additional persistent pain: a nationwide cross-sectional study. |
| 003F90 (2012) |
Anis Ben Maamer [Tunisie] ; Jawhar Baazaoui ; Haithem Zaafouri ; Wided Soualah ; Abderraouf Cherif | Primary intestinal lymphangiectasia or Waldmann's disease: a rare cause of lower gastrointestinal bleeding. |
| 004093 (2012) |
Juliane Winkelmann [Allemagne] ; Ling Lin ; Barbara Schormair [Allemagne] ; Birgitte R. Kornum [Danemark] ; Juliette Faraco ; Giuseppe Plazzi [Italie] ; Atle Melberg [Suède] ; Ferdinando Cornelio [Italie] ; Alexander E. Urban [États-Unis] ; Fabio Pizza [Italie] ; Francesca Poli [Italie] ; Fabian Grubert [États-Unis] ; Thomas Wieland [Allemagne] ; Elisabeth Graf [Allemagne] ; Joachim Hallmayer ; Tim M. Strom [Allemagne] ; Emmanuel Mignot | Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy |
| 004132 (2012) |
Matthew Peters ; Rashad Khazi Syed ; Morgan Katz ; John Moscona ; Christopher Press ; Vikram Nijjar ; Mohannad Bisharat ; Drew Baldwin | May-Thurner syndrome: a not so uncommon cause of a common condition |
| 004217 (2012) |
Samantha N. Mcnulty [États-Unis] ; Makedonka Mitreva [États-Unis] ; Gary J. Weil [États-Unis] ; Peter U. Fischer [États-Unis] | Inter and intra-specific diversity of parasites that cause lymphatic filariasis |
| 004542 (2012) |
Natalie A. Watson [Royaume-Uni] ; Khin Thway [Royaume-Uni] ; Pritash Patel [Royaume-Uni] ; Lay May See [Royaume-Uni] ; Asif Mahmood [Royaume-Uni] | A rare cause of small bowel bleeding |
| 004832 (2012) |
Fc Connell [Royaume-Uni] ; K. Kalidas ; P. Ostergaard ; G. Brice [Royaume-Uni] ; V. Murday [Royaume-Uni] ; Ps Mortimer ; I. Jeffrey [Royaume-Uni] ; S. Jeffery ; Sahar Mansour [Royaume-Uni] | CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis |
