chromosomally < chromosome < chromosomes

Facettes : Author.f AffOrg.f AffPays.f AffRegion.f AffVille.f

List of bibliographic references

Number of relevant bibliographic references: 83.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000187 (2013)	Anthony P. Y. Liu [République populaire de Chine] ; Wing Fai Tang [République populaire de Chine] ; Elizabeth T. Lau [République populaire de Chine] ; Kelvin Y. K. Chan [République populaire de Chine] ; Anita S. Y. Kan [République populaire de Chine] ; Kar Yin Wong [République populaire de Chine] ; Winnie W. Y. Tso [République populaire de Chine] ; Khair Jalal [République populaire de Chine] ; So Lun Lee [République populaire de Chine] ; Christy S. K. Chau [République populaire de Chine] ; Brian H. Y. Chung [République populaire de Chine, Hong Kong]	Expanded Prader–Willi syndrome due to chromosome 15q11.2–14 deletion: Report and a review of literature
000331 (2012)	Keren Markus-Bustani [Israël] ; Yuval Yaron [Israël] ; Myriam Goldstein [Israël] ; Avi Orr-Urtreger [Israël] ; Shay Ben-Shachar [Israël]	Undetected sex chromosome aneuploidy by chromosomal microarray
000333 (2012)	Hasan Onal ; Erdal Adal ; Atilla Ersen [Turquie] ; Zerrin Onal	Turner syndrome with a ring X chromosome and atypical skin manifestation: port wine stain
000374 (2012)	S. Mahajan [Inde] ; A. Kaur [Inde] ; J. Singh [Inde]	Ring Chromosome 22: A Review of the Literature and First Report from India
000396 (2012)	Julie Mcgaughran [Australie] ; Mayenaaz Sidhu [Australie] ; Melissa Jessop [Australie]	Pleural malignancy in a 22‐year‐old female with a chromosome 22q13 deletion
000884 (2010)	Laura Bernardini [Italie] ; Maria Grazia Giuffrida [Italie] ; Paola Francalanci [Italie] ; Anna Capalbo [Italie] ; Antonio Novelli [Italie] ; Francesco Callea [Italie] ; Bruno Dallapiccola [Italie]	X chromosome monosomy restricted to the left ventricle is not a major cause of isolated hypoplastic left heart
000A37 (2010)	Jung Min Ko ; Jae-Min Kim [Corée du Sud] ; Gu-Hwan Kim [Corée du Sud] ; Beom Hee Lee [Corée du Sud] ; Han-Wook Yoo [Corée du Sud]	Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome
000E28 (2009)	P. Callier [France] ; L. Faivre [France] ; S. Pigeonnat [France] ; B. Quilichini [France] ; N. Marle [France] ; C. Thauvin-Robinet [France] ; A. L. Mosca [France] ; A. Masurel-Paulet [France] ; T. Rousseau [France] ; P. Sagot [France] ; N. Laurent [France] ; F. Mugneret [France]	Contribution of array CGH in prognosis and genetic counselling of prenatally diagnosed supernumerary ring chromosome 20
001127 (2008)	Oleg A. Shchelochkov [États-Unis] ; Ankita Patel [États-Unis] ; George M. Weissenberger [États-Unis] ; A. Craig Chinault [États-Unis] ; Joanna Wiszniewska [États-Unis] ; Priscilla H. Fernandes [États-Unis] ; Christine Eng [États-Unis] ; Mary K. Kukolich [États-Unis] ; V. Reid Sutton [États-Unis]	Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome
001203 (2008)	L. Rodríguez [Espagne] ; D. Diego-Alvarez [Espagne] ; I. Lorda-Sanchez [Espagne] ; F. L. Gallardo [Espagne] ; M. L. Martínez-Fernández [Espagne] ; M. E. Arroyo-Mu Oz [Espagne] ; M. L. Martínez-Frías [Espagne]	A small and active ring x chromosome in a female with features of Kabuki syndrome
001490 (2007)	Anita Rauch [Allemagne] ; Helmuth-Günther Dörr	Chromosome 5q subtelomeric deletion syndrome
001537 (2007)	Frédérique Béna [Suisse] ; Armand Bottani [Suisse] ; Fabienne Marcelli [Suisse] ; Loredana D'Amato Sizonenko [Suisse] ; Bernard Conrad [Suisse] ; Sophie Dahoun [Suisse]	A de novo 1.1–1.6 Mb subtelomeric deletion of chromosome 20q13.33 in a patient with learning difficulties but without obvious dysmorphic features
001676 (2006)	Karen Helene Rstavik [Norvège] ; Marianne Kristiansen [Norvège] ; Gun Peggy Knudsen [Norvège] ; Kari Storhaug [Norvège] ; Shild Vege [Norvège] ; Kristin Eiklid [Norvège] ; Tore G. Abrahamsen [Norvège] ; Asma Smahi [France] ; Jon Steen-Johnsen [Norvège]	Novel splicing mutation in the NEMO (IKK‐gamma) gene with severe immunodeficiency and heterogeneity of X‐chromosome inactivation
001825 (2006)	A. R. Abbasi [Japon, Iran] ; A. R. Geriletoya [Japon] ; N. Ihara [Japon] ; M. Khalaj [Japon] ; Y. Sugimoto [Japon] ; T. Kunieda [Japon]	An integrated radiation hybrid map of bovine chromosome 18 that refines a critical region associated with multiple ocular defects in cattle
001A91 (2005)	M Y M. Ng ; T. Andrew ; T D Spector ; S. Jeffery	Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs
001F60 (2004)	Jean-Luc Brun [France] ; Flore Gangbo [France] ; Zon Qi Wen [France] ; Katia Galant [France] ; Laurence Taine [France] ; Brigitte Maugey-Laulom [France] ; Denis Roux [France] ; Raphaelle Mangione [France] ; Jacques Horovitz [France] ; Robert Saura [France]	Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases
002069 (2004)	Caroline Rae [Australie] ; Pamela Joy [Australie] ; Jenny Harasty [Australie] ; Allan Kemp [Australie] ; Stacey Kuan [Australie] ; John Christodoulou [Australie] ; Christopher T. Cowell [Australie] ; Max Coltheart [Australie]	Enlarged Temporal Lobes in Turner Syndrome: An X-chromosome Effect?
002104 (2004)	T. Tsilchorozidou [Grèce] ; F H Menko [Pays-Bas] ; F. Lalloo [Royaume-Uni] ; A. Kidd [Nouvelle-Zélande] ; R. De Silva [Royaume-Uni] ; H. Thomas [Royaume-Uni] ; P. Smith [Royaume-Uni] ; A. Malcolmson [Royaume-Uni] ; J. Dore [Royaume-Uni] ; K. Madan [Pays-Bas] ; A. Brown [Nouvelle-Zélande] ; J G Yovos [Grèce] ; M. Tsaligopoulos [Grèce] ; N. Vogiatzis [Grèce] ; Me Baser ; A J Wallace [Royaume-Uni] ; D G R. Evans [Royaume-Uni]	Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2
002163 (2004)	B. Pal [Royaume-Uni] ; M D Mohamed [Royaume-Uni] ; T J Keen [Royaume-Uni] ; G A Williams [Royaume-Uni] ; J A Bradbury [Royaume-Uni] ; E. Sheridan [Royaume-Uni] ; C F Inglehearn [Royaume-Uni]	A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2–24.2.
002299 (2003)	B. H. Graham [États-Unis] ; C. A. Bacino [États-Unis]	Male patient with non‐mosaic deleted Y‐chromosome and clinical features of Turner syndrome
002365 (2003)	Nataša Mar Un Varda [Slovénie] ; N. Kokalj Voka [Slovénie] ; Z. Kani [Slovénie] ; K. Bra I [Slovénie] ; A. Erjavec [Slovénie] ; B. Zagradišnik [Slovénie] ; A. Gregori [Slovénie]	Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q

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