Abnormalities, Multiple (metabolism) < Abnormalities, Multiple (pathology) < Abnormalities, Multiple (physiopathology)

Facettes : Author.f AffPays.f AffRegion.f AffVille.f AffOrg.f KwdFr.f Mesh.f MeshFr.f

List of bibliographic references indexed by Abnormalities, Multiple (pathology)

Number of relevant bibliographic references: 15.

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.
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
007808 (2006)	Inas Mazen [Égypte] ; Maha S. Zaki	Unusual association of simplified gyral pattern and sparse hair in an Egyptian patient with microcephaly-lymphoedema.
007F44 (2005)	Pradeep C. Vasudevan [Royaume-Uni] ; Sixto Garcia-Minaur ; Maria Pilar Botella ; Antonio Perez-Aytes ; Nora L. Shannon ; Oliver W J. Quarrell	Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.
008542 (2005)	Eugenio Bonioli [Italie] ; Raoul C. Hennekam [Pays-Bas] ; Gianantonio Spena [Italie] ; Guido Morcaldi [Italie] ; Antonio Di Stefano [Italie] ; Giovanni Serra [Italie] ; Carlo Bellini [Italie]	Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal lymphangiectasia
008E93 (2003)	L I Al-Gazali ; J. Hertecant ; R. Ahmed ; N A Khan ; R. Padmanabhan	Further delineation of Hennekam syndrome.
009274 (2003)	Luitgard M. Neumann [Allemagne] ; Ianina Scheer [Allemagne] ; Jürgen Kunze [Allemagne] ; Brigitte Stöver [Allemagne]	Cerebral manifestations, hemihypertrophy and lymphoedema of one leg in a child with epidermal nevus syndrome (Schimmelpenning-Feuerstein-Mims)
009673 (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
009E68 (2001)	Mieke M. Van Haelst [Pays-Bas] ; Jeannette Hoogeboom [Pays-Bas] ; Robert-Jan H. Galjaard [Pays-Bas] ; Wim J. Kleijer [Pays-Bas] ; Nicolette S. Den Hollander [Pays-Bas] ; Ronald R. De Krijger [Pays-Bas] ; Raoul C. M. Hennekam [Pays-Bas] ; Martinus F. Niermeijer [Pays-Bas]	Lymphangiectasia with persistent Müllerian derivatives: Confirmation of autosomal recessive Urioste syndrome
00A175 (2000)	P. Huppke [Allemagne] ; H J Christen ; B. Sattler ; F. Hanefeld	Two brothers with Hennekam syndrome and cerebral abnormalities.
00E854 (1987)	P. Chen [États-Unis] ; Enrique Gonzalez [États-Unis] ; John M. Opitz ; James F. Reynolds	Amniotic band sequence and its neurocutaneous manifestations
00ED09 (1985)	D. Pellerin ; H. Martelli ; X. Latouche ; F. Gasnier	[Congenital soft tissue dysplasia. A new anatomo-clinical entity].
010A83 (1971)	C J Baker ; A J Rudolph	Congenital ring constrictions and intrauterine amputations.
012E35 (????)	H. Martelli [France] ; S. Richard ; M. Moczar ; G. Godeau ; A. Pfister ; D. Pellerin ; M. Vekemans	Congenital soft tissue dysplasias: a morphological and biochemical study.
012F87 (????)	Konrad Oexle [Allemagne] ; Maja Hempel ; Anna Jauch ; Thomas Meitinger ; Núria Rivera-Brugués ; Sabine Stengel-Rutkowski ; Tim Strom	3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

---

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/KwdEn.i -k "Abnormalities, Multiple (pathology)" 

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/KwdEn.i  \
                -Sk "Abnormalities, Multiple (pathology)" \
         | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd 

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Sante
   |area=    LymphedemaV1
   |flux=    Main
   |étape=   Exploration
   |type=    indexItem
   |index=    KwdEn.i
   |clé=    Abnormalities, Multiple (pathology)
}}

---

This area was generated with Dilib version V0.6.31. Data generation: Sat Nov 4 17:40:35 2017. Site generation: Tue Feb 13 16:42:16 2024