| Ident. | Authors (with country if any) | Title |
|---|
| 000070 (2017) |
Miriam Wilmes [Allemagne] ; Kirstin Meier [Allemagne] ; Andrea Schiefer [Allemagne] ; Michaele Josten [Allemagne] ; Christian F. Otten [Royaume-Uni] ; Anna Klöckner [Allemagne] ; Beate Henrichfreise [Allemagne] ; Waldemar Vollmer [Royaume-Uni] ; Achim Hoerauf [Allemagne] ; Kenneth Pfarr [Allemagne] | AmiD Is a Novel Peptidoglycan Amidase in Wolbachia Endosymbionts of Drosophila melanogaster |
| 000194 (2015) |
Elisavet Fotiou [Royaume-Uni] ; Silvia Martin-Almedina [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Shin Lin [États-Unis] ; Kristiana Gordon [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Giles Atton [Royaume-Uni] ; Iona Jeffery [Royaume-Uni] ; David C. Rees [Royaume-Uni] ; Cyril Mignot [France] ; Julie Vogt [Royaume-Uni] ; Tessa Homfray [Royaume-Uni] ; Michael P. Snyder [États-Unis] ; Stanley G. Rockson [États-Unis] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] | Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis |
| 000254 (2015) |
Delva Shamley [Afrique du Sud] ; Karen Robb [Royaume-Uni] | An early warning surveillance programme for detecting upper limb deterioration after treatment for breast cancer: A novel technology supported system |
| 000258 (2015) |
Alexandros Laios [Royaume-Uni] ; Davide Volpi [Royaume-Uni] ; Iain D. C. Tullis [Royaume-Uni] ; Martha Woodward [Royaume-Uni] ; Stephen Kennedy [Royaume-Uni] ; Pubudu N. J. Pathiraja [Royaume-Uni] ; Krishnayan Haldar [Royaume-Uni] ; Borivoj Vojnovic [Royaume-Uni] ; Ahmed A. Ahmed [Royaume-Uni] | A prospective pilot study of detection of sentinel lymph nodes in gynaecological cancers using a novel near infrared fluorescence imaging system |
| 000297 (2014) |
Fasil Tekola-Ayele [États-Unis] ; Adebowale Adeyemo [États-Unis] ; Guanjie Chen [États-Unis] ; Elena Hailu [Éthiopie] ; Abraham Aseffa [Éthiopie] ; Gail Davey [Royaume-Uni] ; Melanie J. Newport [Royaume-Uni] ; Charles N. Rotimi [États-Unis] | Novel genomic signals of recent selection in an Ethiopian population |
| 000298 (2014) |
Felicity Eb May [Royaume-Uni] | Novel drugs that target the estrogen-related receptor alpha: their therapeutic potential in breast cancer |
| 000317 (2014) |
Christopher T. Gordon [France] ; Catia Attanasio [États-Unis, Suisse] ; Shipra Bhatia [Royaume-Uni] ; Sabina Benko [France, États-Unis] ; Morad Ansari [Royaume-Uni] ; Tiong Y. Tan [Australie] ; Arnold Munnich [France] ; Len A. Pennacchio [États-Unis] ; Véronique Abadie [France] ; I. Karen Temple [Royaume-Uni] ; Alice Goldenberg [France] ; Veronica Van Heyningen [Royaume-Uni] ; Jeanne Amiel [France] ; David Fitzpatrick [Royaume-Uni] ; Dirk A. Kleinjan [Royaume-Uni] ; Axel Visel [États-Unis] ; Stanislas Lyonnet [France] | Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence |
| 000349 (2014) |
Carole Sargent [Royaume-Uni] ; Julien Bauer [Royaume-Uni] ; Muhamed Khalil [États-Unis] ; Parker Filmore [États-Unis] ; Michael Bernas [États-Unis] ; Marlys Witte [États-Unis] ; M. Peggy Pearson [États-Unis] ; Robert P. Erickson [États-Unis] | A Five Generation Family with a Novel Mutation in FOXC2 and Lymphedema Worsening to Hydrops in the Youngest Generation |
| 000460 (2013) |
Ai Mackenzie [Royaume-Uni] ; Pj Dopping-Hepenstal [Royaume-Uni] ; L. Ozoemena [Royaume-Uni] ; L. Liu [Royaume-Uni] ; K. Stone [Royaume-Uni] ; Ma Simpson [Royaume-Uni] ; Ja Mcgrath [Royaume-Uni] ; Ae Martinez [Royaume-Uni] ; Je Mellerio [Royaume-Uni] | G28 A Novel Missense Mutation in Keratin 1 Underlying Clinically Mild Epidermolytic Ichthyosis Mimicking Epidermolysis Bullosa Simplex Superficialis |
| 000465 (2013) |
Kristiana Gordon [Royaume-Uni] ; Sarah L. Spiden [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sally Cottrell [Royaume-Uni] ; John Short [Royaume-Uni] ; Rohan Taylor [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] | FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update |
| 000477 (2013) |
G. Brice [Royaume-Uni] ; P. Ostergaard ; S. Jeffery ; K. Gordon [Royaume-Uni] ; Ps Mortimer [Royaume-Uni] ; S. Mansour | A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family |
| 000533 (2012) |
Alison Krentel [Royaume-Uni] ; Robert Aunger | Causal chain mapping: a novel method to analyse treatment compliance decisions relating to lymphatic filariasis elimination in Alor, Indonesia. |
| 000547 (2012) |
D. M. Walsh [Royaume-Uni] ; S. H. Shah [Pakistan] ; M. A. Simpson [Royaume-Uni] ; N. V. Morgan [Royaume-Uni] ; S. Khaliq [Pakistan] ; R. C. Trembath [Royaume-Uni] ; S. Q. Mehdi [Pakistan] ; E. R. Maher [Royaume-Uni] | A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis |
| 000562 (2012) |
C. Pomel [France] ; R. Naik [Royaume-Uni] ; A. Martinez [France] ; G. Ferron [France] ; J. Nassif [Liban] ; J. Dauplat [France] ; A. Jeyarajah [Royaume-Uni] | Systematic (complete) para‐aortic lymphadenectomy: description of a novel surgical classification with technical and anatomical considerations |
| 000587 (2012) |
Filiz Hazan [Turquie] ; Pia Ostergaard [Royaume-Uni] ; Taylan Ozturk [Turquie] ; Esin Kantekin [Turquie] ; Fusun Atlihan [Turquie] ; Steve Jeffery [Royaume-Uni] ; Ferda Ozkinay [Turquie] | A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family |
| 000691 (2011) |
Alison Hopkins [Royaume-Uni, Niger] ; Fran Worboys [Royaume-Uni] ; Richard Bull [Royaume-Uni] ; Ina Farrelly [Royaume-Uni] | Compression strapping: the development of a novel compression technique to enhance compression therapy and healing for ‘hard‐to‐heal’ leg ulcers |
| 000741 (2010) |
Catherine M L. Roberts [Royaume-Uni] ; Janet E. Angus ; Ian H. Leach ; Elizabeth M. Mcdermott ; David A. Walker ; Jane C. Ravenscroft | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). |
| 000783 (2010) |
Mary C. O'Driscoll [Royaume-Uni] ; Kim Jenny [États-Unis] ; Sulagna Saitta [États-Unis] ; William B. Dobyns [États-Unis] ; Karen W. Gripp [États-Unis] | Agenesis of the corpus callosum and congenital lymphedema: A novel recognizable syndrome? |
| 000790 (2010) |
Catherine M. L. Roberts [Royaume-Uni] ; Janet E. Angus [Royaume-Uni] ; Ian H. Leach [Royaume-Uni] ; Elizabeth M. Mcdermott [Royaume-Uni] ; David A. Walker [Royaume-Uni] ; Jane C. Ravenscroft [Royaume-Uni] | A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID) |
| 000C91 (2003) |
A L Evans [Royaume-Uni] ; R. Bell ; G. Brice [Royaume-Uni] ; P. Comeglio [Royaume-Uni] ; C. Lipede ; S. Jeffery ; Peter Mortimer (dermatologue) [Royaume-Uni] ; M. Sarfarazi [États-Unis] ; A H Child [Royaume-Uni] | Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema |
| 000D44 (2002) |
Caroline Thaung [Royaume-Uni] ; Katrine West [Royaume-Uni] ; Brian J. Clark [Royaume-Uni] ; Lisa Mckie [Royaume-Uni] ; Joanne E. Morgan [Royaume-Uni] ; Karen Arnold [Royaume-Uni] ; Patrick M. Nolan [Royaume-Uni] ; Jo Peters [Royaume-Uni] ; A. Jackie Hunter [Royaume-Uni] ; Steve D. M. Brown [Royaume-Uni] ; Ian J. Jackson [Royaume-Uni] ; Sally H. Cross [Royaume-Uni] | Novel ENU-induced eye mutations in the mouse: models for human eye disease |
