List of bibliographic references
Number of relevant bibliographic references: 24.
[0-20] [
0 - 20][
0 - 24][
20-23][
20-40]
Ident. | Authors (with country if any) | Title |
---|
000635 (2004) |
Cagri Yildirim-Toruner [États-Unis] ; Kavitha Subramanian [États-Unis] ; Lamya El Manjra [États-Unis] ; Emily Chen [États-Unis] ; Stanley Goldstein [États-Unis] ; Emilia Vitale [États-Unis, Italie] | A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus |
000741 (2002) |
F. Forzano [Italie] ; F. Faravelli [Italie] ; A. Loy [Italie] ; M. Di Rocco [Italie] | Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype |
000763 (2002) |
Inge D. C. Van Balkom ; Mariel Alders [Pays-Bas] ; Judith Allanson [Canada] ; Carlo Bellini [Italie] ; Ulrich Frank [Allemagne] ; Greetje De Jong [Afrique du Sud] ; Ingeborg Kolbe [Allemagne] ; Didier Lacombe [France] ; Stan Rockson [États-Unis] ; Peter Rowe [Canada] ; Frits Wijburg [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] | Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: A review |
000820 (2001) |
Catharine J. Holberg [États-Unis] ; Robert P. Erickson [États-Unis] ; Michael J. Bernas [États-Unis] ; Marlys H. Witte [États-Unis] ; Kimberly E. Fultz [États-Unis] ; M. Andrade [Brésil] ; Charles L. Witte [États-Unis] | Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some milroy congenital primary lymphedema families |
000840 (2001) |
S. Mansour [Royaume-Uni] ; H. Woffendin [Royaume-Uni] ; S. Mitton [Royaume-Uni] ; I. Jeffery [Royaume-Uni] ; T. Jakins [Royaume-Uni] ; S. Kenwrick [Royaume-Uni] ; V. A. Murday [Royaume-Uni] | Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection |
000899 (2000) |
D. J. Amor [Australie] ; R. J. Leventer [Australie] ; S. Hayllar [Australie] ; A. Bankier [Australie] | Polymicrogyria associated with scalp and limb defects : Variant of Adams-Oliver syndrome |
000917 (2000) |
S. Jacquemont [France] ; S. Barbarot [France] ; M. Boceno [France] ; J. F. Stalder [France] ; A. David [France] | Familial congenital pulmonary lymphangectasia, non-immune hydrops fetalis, facial and lower limb lymphedema : Confirmation of njolstad's report |
000978 (1999) |
C. Limwongse [États-Unis] ; R. E. Wyszynski [États-Unis] ; L. H. Dickerman [États-Unis] ; N. H. Robin [États-Unis] | Microcephaly-lymphedema-chorioretinal dysplasia : A unique genetic syndrome with variable expression and possible characteristic facial appearance |
000A62 (1998) |
S. Strenge [Allemagne] ; U. G. Froster [Allemagne] | Microcephaly-lymphedema syndrome : Report of a family with short stature as additional manifestation |
000B40 (1997) |
B. Angle [États-Unis] ; J. H. Hersh [États-Unis] | Expansion of the phenotype in Hennekam syndrome : A case with new manifestations |
000B79 (1996) |
M. B. Irons [États-Unis] ; D. W. Bianchi [États-Unis] ; R. L. Geggel [États-Unis] ; G. R. Marx [États-Unis] ; I. Bhan [États-Unis] | Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes |
000B96 (1996) |
E. Chen [États-Unis] ; S. K. Larabell [États-Unis] ; J. M. Daniels [États-Unis] ; S. Goldstein [États-Unis] | Distichiasis-lymphedema syndrome : Tetralogy of fallot, chylothorax, and neonatal death |
000C43 (1995) |
H. C. Andersson [États-Unis] ; D. M. Parry ; J. J. Mulvihill | Lymphangiosarcoma in late-onset hereditary lymphedema : case report and nosological implications |
000D72 (1992) |
M. Feingold [États-Unis] ; L. Bartoshesky | Microcephaly, lymphedema, and chorioretinal dysplasi : a distinct syndrome ? |
000E15 (1991) |
O. Gabrielli [Italie] ; C. Catassi ; A. Carlucci ; G. V. Coppa ; P. Giorgi | Intestinal lymphangiectasia, lymphedema, mental retardation, and typical face : confirmation of the Hennekam syndrome |
000E26 (1991) |
M. Urioste [Espagne] ; A. Arroyo ; M.-L. Martinez-Frias | Campomelia, polycystic dysplasia, and cervical lymphocele in two sibs |
000F04 (1989) |
J. M. Opitz ; J. F. Reynolds ; J. M. Fitzgerald | Mandibulofacial dysostosis or bilateral hemifacial microsomia with hearing loss, telecanthus, tetramelic postaxial hexadactyly, congenital hypotonia and lymphedema with joint hypermobility, and pigmentary dysplasia: a new syndrome? |
000F17 (1989) |
R. C. M. Hennekam ; R. A. Geerdink ; B. C. J. Hamel ; F. A. M. Hennekam ; P. Kraus ; J. A. Rammeloo ; A. A. W. Tillemans | Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation |
000F75 (1987) |
D. R. Witt ; H. E. Hoyme ; J. Zonana ; D. K. Manchester ; J. P. Fryns ; J. G. Stevenson ; C. J. R. Curry ; J. G. Hall | Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature |
000F79 (1987) |
S. O. Lewin ; H. E. Hughes | German syndrome in sibs |
000F83 (1987) |
J. Rosenthal ; D. Abeliovich ; R. Carmi | Clinical variability of partial duplication 1q: a clinical report and literature review |
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