chromosomally < chromosome < chromosomes

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

List of bibliographic references indexed by chromosome

Number of relevant bibliographic references: 116.
[0-20] [0 - 20][0 - 50][20-40]

Ident.	Authors (with country if any)	Title
000567 (2017)	Aisling M. O'Riordan [Irlande (pays)] ; Niamh Mcgrath [Irlande (pays)] ; Farhana Sharif [Irlande (pays)] ; Nuala P. Murphy [Irlande (pays)] ; Orla Franklin [Irlande (pays)] ; Sally Ann Lynch [Irlande (pays)] ; Michael J. O'Grady [Irlande (pays)]	Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance.
000857 (2017)	N. Villa [Italie] ; D. Conconi [Italie] ; D. Gambel Benussi [Italie] ; G. Tornese [Italie] ; F. Crosti [Italie] ; E. Sala [Italie] ; L. Dalprà [Italie] ; V. Pecile [Italie]	A complete duplication of X chromosome resulting in a tricentric isochromosome originated by centromere repositioning
000C52 (2016)	Alessandra Bernadete Trov De Marqui ; Roseane Lopes Da Silva-Grecco ; Marly Aparecida Spadotto Balarin	Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome
000D81 (2016)	Pooja Chauhan [Inde] ; Sushil Kumar Jaiswal [Inde] ; Anjali Rani Lakhotia [Inde] ; Amit Kumar Rai [Inde]	Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome
001380 (2016)	Siddharth K. Prakash [États-Unis] ; Carolyn A. Bondy [États-Unis] ; Cheryl L. Maslen [États-Unis] ; Michael Silberbach [États-Unis] ; Angela E. Lin [États-Unis] ; Laura Perrone [Italie] ; Giuseppe Limongelli [Italie] ; Hector I. Michelena [États-Unis] ; Eduardo Bossone [Italie] ; Rodolfo Citro [Italie] ; Scott A. Lemaire ; Simon C. Body [États-Unis] ; Dianna M. Milewicz [États-Unis]	Autosomal and X Chromosome Structural Variants Are Associated with Congenital Heart Defects in Turner Syndrome: The NHLBI GenTAC Registry
001A49 (2015)	Erkan Kalafat ; Mehmet Murat Seval ; Batuhan Turgay ; Acar Koç	Non-invasive prenatal testing for sex chromosome abnormalities: a source of confusion
002A45 (2014)	Helen L. Hanson [Royaume-Uni] ; Meredith J. Wilson ; John P. Short ; Barry A. Chioza ; Andrew H. Crosby ; Ruth M. Nash ; Karen J. Marks ; Sahar Mansour	Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
003074 (2013)	Anna Materna-Kiryluk [Pologne] ; Krzysztof Kiryluk [États-Unis] ; Katelyn E. Burgess [États-Unis] ; Arkadiusz Bieleninik [Pologne] ; Simone Sanna-Cherchi [États-Unis] ; Ali G. Gharavi [États-Unis] ; Anna Latos-Bielenska [Pologne]	The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1
003B59 (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
004145 (2012)	Eugénie Pessia [France] ; Takashi Makino [Japon, Irlande (pays)] ; Marc Bailly-Bechet [France] ; Aoife Mclysaght [Irlande (pays)] ; Gabriel A. B. Marais [France, Portugal]	Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome
004634 (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
004636 (2012)	Hasan Onal ; Erdal Adal ; Atilla Ersen [Turquie] ; Zerrin Onal	Turner syndrome with a ring X chromosome and atypical skin manifestation: port wine stain
004677 (2012)	S. Mahajan [Inde] ; A. Kaur [Inde] ; J. Singh [Inde]	Ring Chromosome 22: A Review of the Literature and First Report from India
004699 (2012)	Julie Mcgaughran [Australie] ; Mayenaaz Sidhu [Australie] ; Melissa Jessop [Australie]	Pleural malignancy in a 22‐year‐old female with a chromosome 22q13 deletion
004B24 (2011)	Majed J. Dasouki [États-Unis] ; Erin L. Youngs [États-Unis] ; Karine Hovanes [États-Unis]	Structural Chromosome Abnormalities Associated with Obesity: Report of Four New subjects and Review of Literature
005138 (2011)	Lucas Onder [Suisse] ; Elke Scandella [Suisse] ; Qian Chai [Suisse] ; Sonja Firner [Suisse] ; Christian T. Mayer [Allemagne] ; Tim Sparwasser [Allemagne] ; Volker Thiel [Suisse] ; Thomas Rülicke [Autriche] ; Burkhard Ludewig [Suisse]	A Novel Bacterial Artificial Chromosome-Transgenic Podoplanin–Cre Mouse Targets Lymphoid Organ Stromal Cells in vivo
005B40 (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
005C93 (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
005F43 (2009)	Vladimir K. Bakalov ; Clara Cheng ; Jian Zhou ; Carolyn A. Bondy	X-Chromosome Gene Dosage and the Risk of Diabetes in Turner Syndrome
006182 (2009)	M H Witte [États-Unis] ; R P Erickson ; M. Khalil ; M. Dellinger ; M. Bernas ; T. Grogan ; H. Nitta ; J. Feng ; D. Duggan ; C L Witte	Lymphedema-distichiasis syndrome without FOXC2 mutation: evidence for chromosome 16 duplication upstream of FOXC2.
006361 (2009)	Sofia Kitsiou-Tzeli [Grèce] ; Emmanouil Manolakos [Grèce] ; Magdalini Lagou [Grèce] ; Maria Kontodiou [Grèce] ; Nadezda Kosyakova [Allemagne] ; Elisabeth Ewers [Allemagne] ; Anja Weise [Allemagne] ; Antonios Garas [Grèce] ; Sandro Orru [Italie] ; Thomas Liehr [Allemagne] ; Aikaterini Metaxotou [Grèce]	Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

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