Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Susan Bint"'
Autor:
Joo Wook Ahn, Susan Bint, Melita D. Irving, Phillipa M. Kyle, Ranjit Akolekar, Shehla N. Mohammed, Caroline Mackie Ogilvie
Publikováno v:
PeerJ, Vol 2, p e354 (2014)
Purpose. To design and validate a prenatal chromosomal microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding t
Externí odkaz:
https://doaj.org/article/7ebf1373d00640fda52330be1a808f44
Autor:
Ved Bhushan Arya, Ekaterini Vamvakiti, Tony Hulse, Michal Ajzensztejn, Nadia Muhi-Iddin, Aparna K.R. Nambisan, Garima Chawla, Ritika R. Kapoor, Charles R. Buchanan, Clare Ferreira Pinto, Susan Bint, Nayana Lahiri
Publikováno v:
Hormone Research in Paediatrics. 92:382-389
Background: Xq27.1 duplication encompassing SOX3 has been implicated in the aetiology of X-linked hypopituitarism associated with intellectual disability and neural tube defects. We describe the largest case series to date of 5 unrelated patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a459fc046a6e19ab23d37c7d8e4f6847
https://doi.org/10.1159/000503784
https://doi.org/10.1159/000503784
Autor:
Susan Bint, Emily Cottrell, Vivian Hwa, Avril Mason, Gudrun E. Moore, Miho Ishida, Neil Wright, Iman Al Basiri, Louise A. Metherell, Leo Dunkel, Stephen J Rose, Helen L Storr, Joo Wook Ahn, Artur Bossowski, Sumana Chatterjee, Asma Deeb, Claudia P. Cabrera, James Greening
Publikováno v:
European Journal of Endocrinology
Objective Copy number variation (CNV) has been associated with idiopathic short stature, small for gestational age and Silver-Russell syndrome (SRS). It has not been extensively investigated in growth hormone insensitivity (GHI; short stature, IGF-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61e5c036083d3b0afa33f5f620e75070
https://pubmed.ncbi.nlm.nih.gov/33055295
https://pubmed.ncbi.nlm.nih.gov/33055295
Autor:
James Greening, Gudrun E. Moore, Miho Ishida, Neil Wright, Helen L Storr, Martin O. Savage, Avril Mason, Louise A. Metherell, Basiri Iman Al, Artur Bossowski, Sumana Chatterjee, Emily Cottrell, Asma Deeb, Stephen J Rose, Susan Bint, JooWook Ahn
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::31ca26688e1a53e2732a0840f2008035
https://doi.org/10.1530/endoabs.58.oc5.8
https://doi.org/10.1530/endoabs.58.oc5.8
Autor:
Susan Bint, Caroline Mackie Ogilvie
Publikováno v:
Reproductive BioMedicine Online. 37:651
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::926cb8e902941385da55aa4b3429f3d7
https://doi.org/10.1016/j.rbmo.2018.09.005
https://doi.org/10.1016/j.rbmo.2018.09.005
Autor:
Farkhondeh Behjati, Kimia Kahrizi, Saghar Ghasemi Firouzabadi, Susan Bint, Caroline Mackie Ogilvie, Iman Bagherizadeh, Hossein Najmabadi, Yousef Shafaghati
Publikováno v:
European Journal of Medical Genetics. 51:608-614
We describe a partial duplication of the chromosome 16 short arm [46,XY,dup(16)(p11.2p13.1)] in an Iranian girl with autism, neurodevelopmental delay, mental retardation, very poor memory, and dysmorphism including sparse hair, upslanting palpebral f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86c2164919fb63a3f706a6c2c32fccff
https://doi.org/10.1016/j.ejmg.2008.06.007
https://doi.org/10.1016/j.ejmg.2008.06.007
Publikováno v:
Journal of Visualized Experiments.
Array CGH for the detection of genomic copy number variants has replaced G-banded karyotype analysis. This paper describes the technology and its application in a clinical diagnostic service laboratory. DNA extracted from a patient’s sample (blood,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f9b6f5083872c6190ee63c9d4165137
https://doi.org/10.3791/51718
https://doi.org/10.3791/51718
Autor:
Julian Barwell, Susan Bint, Pamela Warburton, Miranda Splitt, Caroline Mackie Ogilvie, Darryl J. Maxwell
Publikováno v:
European Journal of Human Genetics. 11:749-753
Neocentromeres are rare functional centromeres formed within noncentromeric chromosomal regions. We report the finding of a neocentromere in a very rare class II analphoid chromosome. This neocentromere was detected prenatally in a fetus with the kar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e9f5a976b0a340b43b148882924c2d3
https://doi.org/10.1038/sj.ejhg.5201047
https://doi.org/10.1038/sj.ejhg.5201047
Autor:
Shehla Mohammed, Caroline Mackie Ogilvie, Susan Bint, Melita Irving, Phillipa M. Kyle, Joo Wook Ahn, Ranjit Akolekar
Publikováno v:
PeerJ, Vol 2, p e354 (2014)
PeerJ
PeerJ
Purpose. To design and validate a prenatal chromosome microarray testing strategy that moves away from size-based detection thresholds, towards a more clinically relevant analysis, providing higher resolution than G-banded chromosomes but avoiding th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a57dd68af48a11378108595f8eed9b8
https://doi.org/10.7287/peerj.preprints.221v1
https://doi.org/10.7287/peerj.preprints.221v1
Autor:
Kathy Mann, Anne Bergbaum, Susan Bint, Joo Wook Ahn, Caroline Mackie Ogilvie, Richard P. Hall
Publikováno v:
Molecular Cytogenetics
Background Array CGH is widely used in cytogenetics centres for postnatal constitutional genome analysis, and is now recommended as a first line test in place of G-banded chromosome analysis. At our centre, first line testing by oligonucleotide array
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::261d53bd4c449a603f0e00d0bcd49a89
https://pubmed.ncbi.nlm.nih.gov/23560982
https://pubmed.ncbi.nlm.nih.gov/23560982