List of bibliographic references indexed by Abnormalities, Multiple
Number of relevant bibliographic references: 100.
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0 - 20][
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20-40]
| Ident. | Authors (with country if any) | Title |
|---|
| 001501 (2016) |
Fatma Bastaki [Émirats arabes unis] ; Madiha Mohamed [Émirats arabes unis] ; Pratibha Nair [Émirats arabes unis] ; Fatima Saif [Émirats arabes unis] ; Nafisa Tawfiq [Émirats arabes unis] ; Mahmoud Taleb Al-Ali [Émirats arabes unis] ; Oliver Brandau [Allemagne] ; Abdul Rezzak Hamzeh [Émirats arabes unis] | A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. |
| 002A33 (2014) |
Mariëlle Alders [Pays-Bas] ; Lihadh Al-Gazali ; Isabelle Cordeiro ; Bruno Dallapiccola ; Livia Garavelli ; Beyhan Tuysuz ; Faranak Salehi ; Martin A. Haagmans ; Olaf R. Mook ; Charles B. Majoie ; Marcel M. Mannens ; Raoul C. Hennekam | Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. |
| 002B49 (2014) |
Ellyze Van Asbeck [États-Unis] ; Arivudainambi Ramalingam ; Chris Dvorak ; Tian-Jian Chen ; Eva Morava | Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. |
| 002D03 (2014) |
Eftychios Siniorakis [Grèce] ; Spyridon Arvanitakis [Grèce] ; Panagiotis Tzevelekos [Grèce] ; Giovanna Mantovani [Italie] ; Emmanuil Manolakos [Grèce] ; Elias Rentoukas [Grèce] | Brachydactyly and atrial septal defect: when the digits point to the heart. |
| 003C43 (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 |
| 004094 (2012) |
Pia Ostergaard [Royaume-Uni] ; Michael A. Simpson [Royaume-Uni] ; Antonella Mendola [Belgique] ; Pradeep Vasudevan [Royaume-Uni] ; Fiona C. Connell [Royaume-Uni] ; Andreas Van Impel [Pays-Bas] ; Anthony T. Moore [Royaume-Uni] ; Bart L. Loeys [Belgique] ; Arash Ghalamkarpour [Belgique] ; Alexandros Onoufriadis [Royaume-Uni] ; Ines Martinez-Corral ; Sophie Devery [Royaume-Uni] ; Jules G. Leroy [Belgique] ; Lut Van Laer [Belgique] ; Amihood Singer [Israël] ; Martin G. Bialer [États-Unis] ; Meriel Mcentagart [Royaume-Uni] ; Oliver Quarrell [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Richard C. Trembath [Royaume-Uni] ; Stefan Schulte-Merker [Pays-Bas] ; Taija Makinen ; Miikka Vikkula [Belgique] ; Peter S. Mortimer [Royaume-Uni] ; Sahar Mansour [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] | Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy |
| 004122 (2012) |
Natalia Pastora [Espagne] ; Jesus Peralta ; Irene Canal-Fontcuberta ; Anna Grabowska ; Jose S. Pulido ; Jose Abelairas ; Felix Armada ; Alfredo Garcia-Alix | Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders. |
| 004C93 (2011) |
Pushpinder Dhillon [États-Unis] ; James A. Bofill | Neu-Laxova syndrome: a prenatal diagnosis. |
| 005492 (2010) |
Loïc Vaillant [France] ; Valérie Tauveron | [Primary lymphedema of limbs]. |
| 005651 (2010) |
Alexander Kreuter ; Tim Waterboer ; Ulrike Wieland | Regression of cutaneous warts in a patient with WILD syndrome following recombinant quadrivalent human papillomavirus vaccination. |
| 005811 (2010) |
Byung Joo Lee [Corée du Sud] ; Jeong Hun Kim ; Young Suk Yu | Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia. |
| 005971 (2010) |
G. Morcaldi [Italie] ; F. Boccardo ; C. Campisi ; T. Bellini ; D. Massocco ; E. Bonioli | Congenital lymphatic dysplasia in Kabuki syndrome: first report of an unusual association. |
| 005A67 (2010) |
Antonella Fabretto [Italie] ; Alison Shardlow ; Flavio Faletra ; Loredana Lepore ; Uros Hladnik ; Paolo Gasparini | A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. |
| 005B38 (2010) |
Pranoot Tanpaiboon [Thaïlande] ; Piranit Kantaputra [Thaïlande] ; Karn Wejathikul [Thaïlande] ; Wirawit Piyamongkol [Thaïlande] | c. 595‐596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient |
| 005D27 (2010) |
Sahar Mansour [Royaume-Uni] ; Fiona Connell [Royaume-Uni] ; Colin Steward [Royaume-Uni] ; Pia Ostergaard [Royaume-Uni] ; Glen Brice [Royaume-Uni] ; Sarah Smithson [Royaume-Uni] ; Peter Lunt [Royaume-Uni] ; Steve Jeffery [Royaume-Uni] ; Inderjeet Dokal [Royaume-Uni] ; Tom Vulliamy [Royaume-Uni] ; Brenda Gibson [Royaume-Uni] ; Shirley Hodgson [Royaume-Uni] ; Sally Cottrell [Royaume-Uni] ; Louise Kiely [Royaume-Uni] ; Lorna Tinworth [Royaume-Uni] ; Kamini Kalidas [Royaume-Uni] ; Ghulam Mufti [Royaume-Uni] ; Jackie Cornish [Royaume-Uni] ; Russell Keenan [Royaume-Uni] ; Peter Mortimer (dermatologue) [Royaume-Uni] ; Victoria Murday [Royaume-Uni] | Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases |
| 005F16 (2009) |
S C Hatt Brupbacher [Suisse] ; O. Job ; P. Senn ; W. Dedes | [Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome]. |
| 006148 (2009) |
Marielle Alders [Pays-Bas] ; Benjamin M. Hogan ; Evisa Gjini ; Faranak Salehi ; Lihadh Al-Gazali ; Eric A. Hennekam ; Eva E. Holmberg ; Marcel M A M. Mannens ; Margot F. Mulder ; G Johan A. Offerhaus ; Trine E. Prescott ; Eelco J. Schroor ; Joke B G M. Verheij ; Merlijn Witte ; Petra J. Zwijnenburg ; Mikka Vikkula ; Stefan Schulte-Merker ; Raoul C. Hennekam | Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. |
| 006599 (2009) |
Smadar Eventov-Friedman [Israël] ; Amihood Singer [Israël] ; Eric S. Shinwell [Israël] | Microcephaly, lymphedema, chorioretinopathy and atrial septal defect: a case report and review of the literature |
| 006605 (2009) |
Jeffrey J. Levine [États-Unis] ; Susan Echiverri [États-Unis] | Massive lymphedema, atrial septal defect, mild mental retardation: Possible case of Irons–Bianchi syndrome |
| 006856 (2008) |
Kemal Ni Li [Turquie] ; Naci Oner ; Hülya Kayserili ; Türkan Ertu Rul | [A case of Hennekam syndrome presenting with massive pericardial effusion]. |
| 006B69 (2008) |
S. Semiz [Turquie] ; E. Dagdeviren ; H. Ergin ; I. Kilic ; S. Kirac ; M. Cimbis ; E. Semiz | Congenital lymphoedema, bronchiectasis and seizure: case report. |
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