Maladies chez les jumeaux < Maladies chromosomiques < Maladies de carence

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List of bibliographic references indexed by Maladies chromosomiques

Number of relevant bibliographic references: 20.

Ident.	Authors (with country if any)	Title
002C51 (2014)	Sara M. Sarasua ; Luigi Boccuto ; Julia L. Sharp ; Alka Dwivedi ; Chin-Fu Chen ; Jonathan D. Rollins ; R Curtis Rogers ; Katy Phelan ; Barbara R. Dupont	Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.
005F19 (2009)	S. Vignes [France] ; M. Coupé ; F. Baulieu ; L. Vaillant	[Limb lymphedema: Diagnosis, explorations, complications. French Lymphology Society].
006D29 (2008)	Kavita Radhakrishnan [États-Unis] ; Stanley G. Rockson [États-Unis]	The Clinical Spectrum of Lymphatic Disease
007E27 (2005)	C. Guerrero Laleona ; S. Gimeno Aguilar ; D. Portilla C Rdova ; A. Honrrubia Grijalbo	[Distichiasis-lymphedema syndrome].
009054 (2003)	Brad Angle [États-Unis] ; Frank Yen [États-Unis] ; Joseph H. Hersh [États-Unis] ; Gordon Gowans [États-Unis]	Patient with terminal duplication 3q and terminal deletion 5q: comparison with the 3q duplication syndrome and distal 5q deletion syndrome
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
00D515 (1991)	D. Lacombe [France] ; A. Taieb ; P. Masson ; M. Fayon ; J L Demarquez	Neonatal Noonan syndrome with a molluscoid cutaneous excess over the scalp.
00DE75 (1989)	D D Farhud ; I. Farhud ; G R Walizadeh ; M. Djaber-Ansari	Congenital hereditary lymphedema (Nonne/Milroy).
00E920 (1986)	H J Voigt ; U. Claussen ; R. Ulmer	[Fetal neck edema--early sonographic indications of a chromosome abnormality].
00E984 (1986)	A H Salem ; A M Mulhim ; C. Grant ; M S Khwaja	Milroy's disease in a Saudi family.
00EC99 (1985)	L W Terstappen ; R P Arens ; C H Ten Napel	[Hereditary lymphedema, a frequently unrecognized form of chronic edema; clinical study in 2 families with Meige's disease].
00F813 (1981)	R. Henrion ; M C Aubry ; J P Aubry ; C N Emmanuelli ; Y. Dumez ; J F Oury	[The antenatal diagnosis of Bonnevie-Ullrich's syndrome. The role of ultrasound (author's transl)].
00FF00 (1978)	L B Holmes ; J P Fields ; J B Zabriskie	Hereditary late-onset lymphedema.
010957 (1972)	E W Price	A possible genetic factor in non-filarial elephantiasis of the lower legs.
011173 (1967)	Philipf. Benson [Royaume-Uni] ; Angelai. Taylor [Royaume-Uni] ; Malcolmh. Gough [Royaume-Uni]	CHROMOSOME ANOMALIES IN PRIMARY LYMPHŒDEMA
011479 (1965)	P. F. Benson ; M. H. Gough ; P. E. Polani	Lymphangiography and Chromosome Studies in Females with Lymphoedema and Possible Ovarian Dysgenesis
012382 (????)	M. Burdea ; C. Belinschi ; A. Harmanschi ; O. Rusu	[Turner's syndrome with karyotype XO associated with the Debré-Fibiger syndrome].
012821 (????)	H R Mendoza	[A peculiar syndrome of congenital abnormalities].
012A06 (????)	C. Severien ; S. Felix ; K. Bartholomé	Ring chromosome 22: a case report.
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.

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