Publications by authors named "Susan Bint"

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Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.
Federica Ruscitti, Tara Giacchino, Lemonia Koutoulas, Tessa Homfray, Ranjit Akolekar, Susan Bint

Prenat Diagn· January 2025

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Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity.
Emily Cottrell, Claudia P Cabrera, Miho Ishida, Sumana Chatterjee, James Greening, Susan Bint

Eur J Endocrinol· December 2020

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Xq27.1 Duplication Encompassing SOX3: Variable Phenotype and Smallest Duplication Associated with Hypopituitarism to Date - A Large Case Series of Unrelated Patients and a Literature Review.
Ved Bhushan Arya, Garima Chawla, Aparna K R Nambisan, Nadia Muhi-Iddin, Ekaterini Vamvakiti, Susan Bint

Horm Res Paediatr· July 2020

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Care needed in interpretation of chromosome rearrangements.
Caroline Ogilvie, Susan Bint

Reprod Biomed Online· November 2018

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Array comparative genomic hybridization (array CGH) for detection of genomic copy number variants.
Joo Wook Ahn, Michael Coldwell, Susan Bint, Caroline Mackie Ogilvie

J Vis Exp· February 2015

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Meiotic outcomes of three-way translocations ascertained in cleavage-stage embryos: refinement of reproductive risks and implications for PGD.
Paul N Scriven, Susan M Bint, Angela F Davies, Caroline Mackie Ogilvie

Eur J Hum Genet· June 2014

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A new direction for prenatal chromosome microarray testing: software-targeting for detection of clinically significant chromosome imbalance without equivocal findings.
Joo Wook Ahn, Susan Bint, Melita D Irving, Phillipa M Kyle, Ranjit Akolekar

PeerJ· May 2014

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Multicolor banding remains an important adjunct to array CGH and conventional karyotyping.
Susan M Bint, Angela F Davies, Caroline Mackie Ogilvie

Mol Cytogenet· December 2013

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Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall

Mol Cytogenet· April 2013

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Successful PGD cycles for mosaic Robertsonian translocation carriers provide insights into the mechanism of formation of the derivative chromosomes.
Susan M Bint, Paul N Scriven, Caroline Mackie Ogilvie

Am J Med Genet A· March 2013

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Tissue-specific mosaicism for tetrasomy 9p uncovered by array CGH.
Marwa I Shehab, Inas Mazen, Susan Bint

Am J Med Genet A· October 2011

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M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.
Farkhondeh Behjati, Yousef Shafaghati, Saghar Ghasemi Firouzabadi, Kimia Kahrizi, Iman Bagherizadeh, Susan Bint

Eur J Med Genet· March 2009

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Multicolor banding detects a complex three chromosome, seven breakpoint unbalanced rearrangement in an ICSI-derived fetus with multiple abnormalities.
Mary J Seller, Susan Bint, Fred Kavalier, Richard N Brown, Caroline Mackie Ogilvie

Am J Med Genet A· May 2006

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Class II neocentromeres: a putative common neocentromere site in band 4q21.2.
Pamela C Warburton, Julian Barwell, Miranda Splitt, Darryl Maxwell, Susan Bint

Eur J Hum Genet· October 2003

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