Chromosome Inversion < Chromosome Mapping < Chromosomes

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List of bibliographic references

Number of relevant bibliographic references: 23.
[0-20] [0 - 20][0 - 23][20-22][20-40]

Ident.	Authors (with country if any)	Title
000424 (2000)	Laura N. Bull ; Erin Roche ; Eyun J. Song ; Jan Pedersen ; A. S. Knisely ; C. B. Van Der Hagen ; Kristin Eiklid ; Ystein Aagenaes [États-Unis] ; Nelson B. Freimer	Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
000428 (2000)	S E Hong [États-Unis] ; Y Y Shugart ; D T Huang ; S A Shahwan ; P E Grant ; J O Hourihane ; N D Martin ; C A Walsh	Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
000529 (2001)	C J Holberg [États-Unis] ; R P Erickson ; M J Bernas ; M H Witte ; K E Fultz ; M. Andrade ; C L Witte	Segregation analyses and a genome-wide linkage search confirm genetic heterogeneity and suggest oligogenic inheritance in some Milroy congenital primary lymphedema families.
000754 (2001)	C. Boucher ; C. Sargent ; T. Ogata ; N. Affara	Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location
000A07 (2002)	Laura N. Bull [États-Unis]	Hereditary forms of intrahepatic cholestasis.
000D16 (2003)	Shu Wang [République populaire de Chine] ; Jin-Zhong Chen ; Zhen Zhang ; Shaohua Gu ; Chaoneng Ji ; Rong Tang ; Kang Ying ; Yi Xie ; Yumin Mao	Cloning, expression and genomic structure of a novel human GNB2L1 gene, which encodes a receptor of activated protein kinase C (RACK).
000D38 (2003)	Martin Frühwirth [Autriche] ; Andreas R. Janecke ; Thomas Müller ; Victoria E H. Carlton ; Florian Kronenberg ; Felix Offner ; A S Knisely ; Silvana Geleff ; Eyun J. Song ; Burkhard Simma ; Alfred Königsrainer ; Raimund Margreiter ; C B Van Der Hagen ; Kristin Eiklid ; Oystein Aagenaes ; Laura Bull ; Helmut Ellemunter	Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
000E31 (2003)	Anita Rauch [Allemagne] ; Maike Beese ; Ertan Mayatepek ; Helmut-Günther Dörr ; Dieter Wenzel ; André Reis ; Udo Trautmann	A novel 5q35.3 subtelomeric deletion syndrome.
002024 (2006)	K L Lachlan [Royaume-Uni] ; S. Youings ; T. Costa ; P A Jacobs ; N S Thomas	A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions.
002572 (2007)	Mylène Béri-Deixheimer [France] ; Marie-José Gregoire ; Annick Toutain ; Karène Brochet ; Sylvain Briault ; Jean-Luc Schaff ; Bruno Leheup ; Philippe Jonveaux	Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogénéticiens de langue Française'.
002706 (1991)	L G Kindblom [Suède] ; G. Stenman ; L. Angervall	Morphological and cytogenetic studies of angiosarcoma in Stewart-Treves syndrome.
002953 (2007)	Anita Rauch [Allemagne] ; Helmuth-Günther Dörr	Chromosome 5q subtelomeric deletion syndrome.
002B19 (2008)	Sajid Malik [Allemagne] ; Karl-Heinz Grzeschik	Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.
003727 (2010)	Fiona Connell [Royaume-Uni] ; Kamini Kalidas ; Pia Ostergaard ; Glen Brice ; Tessa Homfray ; Lesley Roberts ; David J. Bunyan ; Sally Mitton ; Sahar Mansour ; Peter Mortimer (dermatologue)‎ [Royaume-Uni] ; Steve Jeffery	Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
004B67 (2012)	Matthew G. Butler [États-Unis] ; Susan L. Dagenais [États-Unis] ; José L. Garcia-Perez [États-Unis, Espagne] ; Pascal Brouillard [Belgique] ; Miikka Vikkula [Belgique] ; Peter Strouse [États-Unis] ; Jeffrey W. Innis [États-Unis] ; Thomas W. Glover [États-Unis]	Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation
006741 (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.
006965 (2014)	Ghayda M. Mirzaa [États-Unis] ; Laura Enyedi [États-Unis] ; Gretchen Parsons [États-Unis] ; Sarah Collins [États-Unis] ; Livija Medne [États-Unis] ; Carissa Adams [États-Unis] ; Thomas Ward [États-Unis] ; Bradley Davitt [États-Unis] ; Alma Bicknese [États-Unis] ; Elaine Zackai [États-Unis] ; Helga Toriello [États-Unis] ; William B. Dobyns [États-Unis] ; Susan Christian [États-Unis]	Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature
009D32 (1967)	P F Benson ; A I Taylor ; M H Gough	Chromosome anomalies in primary lymphoedema.
00B165 (1995)	R P Erickson [États-Unis] ; L. Hudgins ; J F Stone ; S. Schmidt ; C. Wilke ; T W Glover	A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome.
00B283 (1994)	M. Genuardi [Italie] ; F. Calvieri ; C. Tozzi ; R. Coslovi ; G. Neri	A new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosum.
00B342 (1994)	D W Severson ; A. Mori ; Y. Zhang ; B M Christensen	Chromosomal mapping of two loci affecting filarial worm susceptibility in Aedes aegypti.

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