0002-8703 < 0002-9297 < 0002-9378

Facettes : Author.f

List of bibliographic references

Number of relevant bibliographic references: 43.
[0-20] [0 - 20][0 - 43][20-40]

Ident.	Authors (with country if any)	Title
000001 (2000)	Laura N. Bull ; Erin Roche ; Eyun J. Song ; Jan Pedersen ; A. S. Knisely ; C. B. Van Der Hagen ; Kristin Eiklid ; Ystein Aagenaes ; Nelson B. Freimer	Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q
000002 (2001)	Swaroop Aradhya ; Gilles Courtois ; Aleks Rajkovic ; Richard Alan Lewis ; Moise Levy ; Alain Israël ; David L. Nelson	Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)
000003 (2005)	Kym M. Boycott ; Shauna Flavelle ; Alexandre Bureau ; Hannah C. Glass ; T. Mary Fujiwara ; Elaine Wirrell ; Krista Davey ; Albert E. Chudley ; James N. Scott ; D. Ross Mcleod ; Jillian S. Parboosingh	Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification
000004 (2006)	Anne Puel ; Janine Reichenbach ; Jacinta Bustamante ; Cheng-Lung Ku ; Jacqueline Feinberg ; Rainer Döffinger ; Marion Bonnet ; Orchidée Filipe-Santos ; Ludovic De Beaucoudrey ; Anne Durandy ; Gerd Horneff ; Francesco Novelli ; Volker Wahn ; Asma Smahi ; Alain Israel ; Tim Niehues ; Jean-Laurent Casanova	The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
000008 (2001)		Erratum
000010 (2000)	Kathryn Beauregard	This Month in the Journal
000011 (2003)	Manon C. Zweers ; Jim Bristow ; Peter M. Steijlen ; Willow B. Dean ; Ben C. Hamel ; Marisol Otero ; Martina Kucharekova ; Jan B. Boezeman ; Joost Schalkwijk	Haploinsufficiency of TNXB Is Associated with Hypermobility Type of Ehlers-Danlos Syndrome
000032 (2000)	Alexandre Irrthum ; Marika J. Karkkainen ; Koen Devriendt ; Kari Alitalo ; Miikka Vikkula	Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase
000033 (2000)	Jianming Fang ; Susan L. Dagenais ; Robert P. Erickson ; Martin F. Arlt ; Michael W. Glynn ; Jerome L. Gorski ; Laurie H. Seaver ; Thomas W. Glover	Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
000034 (2001)		Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome
000035 (2003)	Alexandre Irrthum ; Koenraad Devriendt ; David Chitayat ; Gert Matthijs ; Conrad Glade ; Peter M. Steijlen ; Jean-Pierre Fryns ; Maurice A. Van Steensel ; Miikka Vikkula	Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia
000036 (2004)	William R. Wilcox ; Maryam Banikazemi ; Nathalie Guffon ; Stephen Waldek ; Philip Lee ; Gabor E. Linthorst ; Robert J. Desnick ; Dominique P. Germain	Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease
000037 (2004)	Dirk A. Kleinjan ; Veronica Van Heyningen	Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease
000F80 (1989)		Clinical genetics
000F81 (1990)		Clinical genetics
000F82 (1986)		Cytogenetics
000F83 (1986)		Clinical genetics
000F84 (1975)		Program and abstracts, annual meeting of the American Society of Human Genetics, Baltimore, Maryland, October 9–11, 1975
001251 (1950)		Bibliography of human genetics
001252 (1959)	R. H. Post	Bibliography of Human Genetics
001253 (1999)	J. Mangion ; N. Rahman ; S. Mansour ; G. Brice ; J. Rosbotham ; A H Child ; V A Murday ; P S Mortimer ; R. Barfoot ; A. Sigurdsson ; S. Edkins ; M. Sarfarazi ; K. Burnand ; A L Evans ; T O Nunan ; M R Stratton ; S. Jeffery	A gene for lymphedema-distichiasis maps to 16q24.3.

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