List of bibliographic references indexed by Consanguinité
Number of relevant bibliographic references: 20.
| Ident. | Authors (with country if any) | Title |
|---|
| 002213 (2015) |
Patrick Frosk [Canada] ; Bernard Chodirker [Canada] ; Louise Simard [Canada] ; Wael El-Matary [Canada] ; Ana Hanlon-Dearman [Canada] ; Jeremy Schwartzentruber [Canada] ; Jacek Majewski [Canada] ; Cheryl Rockman-Greenberg [Canada] | A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature |
| 002252 (2015) |
Carolyn C. Jackson [États-Unis] ; Lucy Best [États-Unis] ; Lazaro Lorenzo [France] ; Jean-Laurent Casanova [États-Unis, France] ; Jochen Wacker [Allemagne] ; Simone Bertz [Allemagne] ; Abbas Agaimy [Allemagne] ; Thomas Harrer [Allemagne] | A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression |
| 004270 (2012) |
Neslihan Edeer Karaca [Turquie] ; Stephanie Boisson-Dupuis [États-Unis] ; Güzide Aksu [Turquie] ; Jacinta Bustamante [France] ; Gulsen Kandiloglu [Turquie] ; Nazan Ozsan [Turquie] ; Mine Hekimgil [Turquie] ; Jean-Laurent Casanova [États-Unis] ; Necil Kutukculer [Turquie] | Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN–γ receptor–1 deficiency |
| 004879 (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 |
| 004F46 (2011) |
K. Kaarthigeyan [Inde] ; M. Ramprakash [Inde] ; G. Kalpana [Inde] | Distichiasis-lymphedema syndrome with optic disc pit |
| 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. |
| 006B70 (2008) |
Piero Pavone [Italie] ; Carmelo Lucenti ; Filippo Fraggetta ; Giuseppe Micali ; Gemma Incorpora ; Martino Ruggieri | Congenital lymphedema-lymphangiectasia associated with scrotal angiokeratoma (Fordyce Type) and hearing impairment. |
| 009255 (2003) |
Alexandre Irrthum [États-Unis] ; Koenraad Devriendt [Belgique] ; David Chitayat [États-Unis] ; Gert Matthijs [Belgique] ; Conrad Glade [Pays-Bas] ; Peter M. Steijlen [Pays-Bas] ; Jean-Pierre Fryns [Belgique] ; Maurice A. M. Van Steensel [Pays-Bas] ; Miikka Vikkula [États-Unis] | Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia |
| 009D92 (2001) |
Y. Fatinni [Arabie saoudite] ; A. Asindi [Arabie saoudite] ; Y. Al Falki [Arabie saoudite] ; A. Al Harthi [Arabie saoudite] ; S. Al Fifi [Arabie saoudite] ; S. Al-Daama [Arabie saoudite] | Possible new autosomal recessive syndrome of congenital lymphoedema, nail dystrophy and esotropia in a Saudi family |
| 00A543 (2000) |
David J. Amor [Australie] ; Richard J. Leventer [États-Unis, Australie] ; Sari Hayllar [Australie] ; Agnes Bankier [Australie] | Polymicrogyria associated with scalp and limb defects: Variant of Adams‐Oliver syndrome |
| 00A609 (2000) |
Laura N. Bull [États-Unis] ; Erin Roche [États-Unis] ; Eyun J. Song [États-Unis] ; Jan Pedersen [Norvège] ; A. S. Knisely [Norvège] ; C. B. Van Der Hagen [Norvège] ; Kristin Eiklid [Norvège] ; Ystein Aagenaes [États-Unis] ; Nelson B. Freimer [États-Unis] | Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q |
| 00B115 (1998) |
O. Aagenaes [Norvège] | Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age. |
| 00B145 (1998) |
L I Al-Gazali ; D. Bakalinova | Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. |
| 00D032 (1993) |
J. O'B. Hourihane [Royaume-Uni] ; C. P. Bennett ; R. Chaudhuri ; S. A. Robb ; N. D. T. Martin [Royaume-Uni] | A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema |
| 00D773 (1991) |
Orazio Gabrielli [Italie] ; Carlo Catassi [Italie] ; Antonio Carlucci [Italie] ; Giovanni V. Coppa [Italie] ; Pierluigi Giorgi [Italie] | Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face: Confirmation of the Hennekam syndrome |
| 00E093 (1989) |
R. C. M. Hennekam [Pays-Bas] ; R. A. Geerdink [Pays-Bas] ; B. C. J. Hamel [Pays-Bas] ; F. A. M. Hennekam [Pays-Bas] ; P. Kraus [Pays-Bas] ; J. A. Rammeloo [Pays-Bas] ; A. A. W. Tillemans [Pays-Bas] | Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation |
| 010593 (1974) |
C. Viseskul ; J M Opitz ; J W Spranger ; H A Hartmann ; E F Gilbert | Pathology of chondrodysplasia punctata rhizomelic type. |
| 010607 (1974) |
O. Aagenaes | Hereditary recurrent cholestasis with lymphoedema--two new families. |
| 012B37 (????) |
Rafael Fabiano Machado Rosa [Brésil] ; Flávia Enk [Brésil] ; Korine Camargo [Brésil] ; Giovanni Marco Travi [Brésil] ; André Freitas [Brésil] ; Rosana Cardoso Manique Rosa [Brésil] ; Carla Graziadio [Brésil] ; Vinicius Freitas De Mattos [Brésil] ; Paulo Ricardo Gazzola Zen [Brésil] | Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report. |
| 012C95 (????) |
C. Glade [Pays-Bas] ; M A Van Steensel ; P M Steijlen | Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? |
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