Publications by authors named "Alison Gardner"

62Publications

Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion.

Eur J Med Genet 2020 Oct 17;63(10):104010. Epub 2020 Jul 17.

Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2020.104010DOI Listing
October 2020

Intrasinus bolstering of traumatic maxillary sinus fractures by using Foley catheter balloons in two foals.

Vet Surg 2020 Apr 29. Epub 2020 Apr 29.

Department of Veterinary Clinical Sciences, The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1111/vsu.13433DOI Listing
April 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

Eur J Med Genet 2020 Apr 23;63(4):103799. Epub 2019 Oct 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, SA, 5000, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA, 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103799DOI Listing
April 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Exploratory Celiotomy in the Horse Secondary to Acute Colic: A Review of Indications and Success Rates.

Top Companion Anim Med 2019 Mar 16;34:1-9. Epub 2018 Nov 16.

The Ohio State University, Columbus, Ohio.

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http://dx.doi.org/10.1053/j.tcam.2018.11.001DOI Listing
March 2019

Not All Stridor Is Croup.

Pediatr Emerg Care 2020 Jan;36(1):e14-e17

From the Wake Forest Baptist Medical Center, Winston-Salem, NC 27127.

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http://dx.doi.org/10.1097/PEC.0000000000001624DOI Listing
January 2020

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Transl Psychiatry 2018 04 23;8(1):88. Epub 2018 Apr 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/s41398-018-0136-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911435PMC
April 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Burnout Rates in Pediatric Emergency Medicine Physicians.

Pediatr Emerg Care 2020 Apr;36(4):192-195

Pediatrics and Emergency Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC.

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http://dx.doi.org/10.1097/PEC.0000000000001379DOI Listing
April 2020

Molecular Basis of Altered hERG1 Channel Gating Induced by Ginsenoside Rg3.

Mol Pharmacol 2017 10 13;92(4):437-450. Epub 2017 Jul 13.

Nora Eccles Harrison Cardiovascular Research and Training Institute (A.G., W.W., S.T., M.C.S.) and Division of Cardiovascular Medicine, Department of Internal Medicine, (M.C.S.), University of Utah, Salt Lake City, Utah; and Department of Pharmacology and Toxicology, University of Vienna, Vienna, Austria (E.-M.Z.-P., A.S.-W.)

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http://dx.doi.org/10.1124/mol.117.108886DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588553PMC
October 2017

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

Molecular mechanisms of Slo2 K channel closure.

J Physiol 2017 04 2;595(7):2321-2336. Epub 2016 Dec 2.

Nora Eccles Harrison Cardiovascular Research & Training Institute.

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http://dx.doi.org/10.1113/JP273225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5374106PMC
April 2017

Ginsenoside Rg3, a Gating Modifier of EAG Family K+ Channels.

Mol Pharmacol 2016 10 8;90(4):469-82. Epub 2016 Aug 8.

Nora Eccles Harrison Cardiovascular Research and Training Institute (W.W., A.G., F.B.S., M.C.S.), Department of Bioengineering (F.B.S.), Department of Internal Medicine, Division of Cardiovascular Medicine (M.C.S.), University of Utah, Salt Lake City, Utah

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034692PMC
http://dx.doi.org/10.1124/mol.116.104091DOI Listing
October 2016

A TASER conducted electrical weapon with cardiac biomonitoring capability: Proof of concept and initial human trial.

J Forensic Leg Med 2016 Oct 5;43:48-52. Epub 2016 Jul 5.

Department of Emergency Medicine, Wake Forest University School of Medicine, Winston Salem, NC, USA.

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http://dx.doi.org/10.1016/j.jflm.2016.07.003DOI Listing
October 2016

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.

Clin Endocrinol (Oxf) 2016 Oct 9;85(4):609-15. Epub 2016 Jun 9.

School of Biological Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1111/cen.13094DOI Listing
October 2016

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Injury patterns associated with hypotension in pediatric trauma patients: A national trauma database review.

J Trauma Acute Care Surg 2015 Jun;78(6):1143-8

From the Departments of Pediatrics and Emergency Medicine (A.R.G.), General Surgery, Division of Surgical Sciences (D.I.D.), Biostatistical Sciences (J.A.T.), Emergency Medicine (C.D.M.), and General Surgery, Section of Pediatric Surgery (J.P.), Wake Forest University School of Medicine, Winston-Salem, North Carolina.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/TA.0000000000000658DOI Listing
June 2015

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

Eur J Med Genet 2015 Jun-Jul;58(6-7):364-8. Epub 2015 Apr 28.

Robinson Research Institute, The University of Adelaide, Adelaide, SA 5000, Australia; School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.04.004DOI Listing
March 2016

C-Linker Accounts for Differential Sensitivity of ERG1 and ERG2 K+ Channels to RPR260243-Induced Slow Deactivation.

Mol Pharmacol 2015 Jul 17;88(1):19-28. Epub 2015 Apr 17.

Nora Eccles Harrison Cardiovascular Research and Training Institute (A.G., M.C.S.) and Department of Internal Medicine, Division of Cardiovascular Medicine (M.C.S.), University of Utah, Salt Lake City, Utah

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http://dx.doi.org/10.1124/mol.115.098384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468633PMC
July 2015

The Link between Inactivation and High-Affinity Block of hERG1 Channels.

Mol Pharmacol 2015 Jun 8;87(6):1042-50. Epub 2015 Apr 8.

Nora Eccles Harrison Cardiovascular Research & Training Institute (W.W., A.G., M.C.S.), Department of Internal Medicine, Division of Cardiovascular Medicine (M.C.S.), University of Utah, Salt Lake City, Utah

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http://molpharm.aspetjournals.org/content/87/6/1042.full.pdf
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http://molpharm.aspetjournals.org/cgi/doi/10.1124/mol.115.09
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http://dx.doi.org/10.1124/mol.115.098111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429717PMC
June 2015

Imaging of the elbow in children with wrist fracture: an unnecessary source of radiation and use of resources?

Pediatr Radiol 2015 Jul 26;45(8):1169-73. Epub 2015 Feb 26.

Department of Radiology, Wake Forest University Baptist Health, Medical Center Boulevard, Winston-Salem, NC, 27157, USA,

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http://dx.doi.org/10.1007/s00247-015-3304-1DOI Listing
July 2015

Concatenated hERG1 tetramers reveal stoichiometry of altered channel gating by RPR-260243.

Mol Pharmacol 2015 17;87(3):401-9. Epub 2014 Dec 17.

Nora Eccles Harrison Cardiovascular Research and Training Institute (W.W., A.G., M.C.S.) and Department of Internal Medicine, Division of Cardiovascular Medicine (M.C.S.), University of Utah, Salt Lake City, Utah

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http://molpharm.aspetjournals.org/cgi/doi/10.1124/mol.114.09
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http://dx.doi.org/10.1124/mol.114.096693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352586PMC
March 2015

Cooperative subunit interactions mediate fast C-type inactivation of hERG1 K+ channels.

J Physiol 2014 Oct 25;592(20):4465-80. Epub 2014 Jul 25.

Nora Eccles Harrison Cardiovascular Research & Training Institute Department of Internal Medicine, Division of Cardiovascular Medicine, University of Utah, Salt Lake City, UT, USA

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http://dx.doi.org/10.1113/jphysiol.2014.277483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287738PMC
October 2014

Stoichiometry of altered hERG1 channel gating by small molecule activators.

J Gen Physiol 2014 Apr 17;143(4):499-512. Epub 2014 Mar 17.

Division of Cardiovascular Medicine, Department of Internal Medicine, 2 Nora Eccles Harrison Cardiovascular Research and Training Institute, and 3 Department of Bioengineering, University of Utah, Salt Lake City, UT 84112.

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http://dx.doi.org/10.1085/jgp.201311038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971662PMC
April 2014

Structural basis of ion permeation gating in Slo2.1 K+ channels.

J Gen Physiol 2013 Nov;142(5):523-42

Nora Eccles Harrison Cardiovascular Research and Training Institute, 2 Department of Pharmaceutics and Pharmaceutical Chemistry, and 3 Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112.

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http://dx.doi.org/10.1085/jgp.201311064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813382PMC
November 2013

NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

Eur J Med Genet 2013 Sep 30;56(9):506-9. Epub 2013 Jul 30.

The Robinson Institute, The University of Adelaide, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.003DOI Listing
September 2013

Isolated head injury is a cause of shock in pediatric trauma patients.

Pediatr Emerg Care 2013 Aug;29(8):879-83

Departments of Pediatrics, Wake Forest Health Sciences, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1097/PEC.0b013e31829ec0eeDOI Listing
August 2013

Conducted electrical weapon (TASER) use against minors: a shocking analysis.

Pediatr Emerg Care 2012 Sep;28(9):873-7

Department of Emergency Medicine, Wake Forest University Health Sciences, Winston-Salem, NC, USA.

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http://dx.doi.org/10.1097/PEC.0b013e31826763d1DOI Listing
September 2012

Eat your vegetables.

Authors:
Alison E Gardner

Oncology (Williston Park) 2012 Jun;26(6):585-6

The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.

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June 2012

A 6-year-old girl with chronic vaginal discharge.

Clin Pediatr (Phila) 2012 Aug 11;51(8):801-3. Epub 2012 Apr 11.

Wake Forest University School of Medicine, Winston-Salem, NC 27157-1089, USA.

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http://journals.sagepub.com/doi/10.1177/0009922812439463
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http://dx.doi.org/10.1177/0009922812439463DOI Listing
August 2012

Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?

Eur J Hum Genet 2012 Dec 11;20(12):1311-4. Epub 2012 Apr 11.

Neurogenetics Laboratory, Department of Genetics and Molecular Pathology, SA Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2012.61DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499743PMC
December 2012

Novel mechanism for regulation of plasma platelet-activating factor acetylhydrolase expression in mammalian cells.

Biochem J 2010 May 13;428(2):269-79. Epub 2010 May 13.

Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112-5550, U.S.A.

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http://dx.doi.org/10.1042/BJ20100039DOI Listing
May 2010

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Identification of a domain that mediates association of platelet-activating factor acetylhydrolase with high density lipoprotein.

J Biol Chem 2008 Jun 22;283(25):17099-106. Epub 2008 Apr 22.

Huntsman Cancer Institute and Department of Internal Medicine, University of Utah, Salt Lake City, Utah 84112, USA.

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http://dx.doi.org/10.1074/jbc.M802394200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427361PMC
June 2008

Diagnosing fungal infections in neutropenic patients.

Authors:
Alison Gardner

Clin J Oncol Nurs 2007 Feb;11(1):29-32

University of Texas M.D. Anderson Cancer Center, Houston, USA.

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http://cjon.ons.org/cjon/11/1/diagnosing-fungal-infections-n
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http://dx.doi.org/10.1188/07.CJON.29-32DOI Listing
February 2007

Molecular basis for susceptibility of plasma platelet-activating factor acetylhydrolase to oxidative inactivation.

FASEB J 2007 Apr 8;21(4):1164-76. Epub 2007 Jan 8.

Huntsman Cancer Institute, 2000 Cir. of Hope, University of Utah, Salt Lake City, UT 84112-5550, USA.

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http://dx.doi.org/10.1096/fj.06-6743comDOI Listing
April 2007

Aberrant CBFA2T3B gene promoter methylation in breast tumors.

Mol Cancer 2004 Aug 10;3:22. Epub 2004 Aug 10.

Bionomics Limited, Thebarton, Adelaide, SA 5031, Australia.

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http://dx.doi.org/10.1186/1476-4598-3-22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC516017PMC
August 2004

The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.

J Hum Genet 2004 18;49(6):308-311. Epub 2004 May 18.

Department of Medicine, Breast Cancer Genetics Group, Hanson Institute (North Building), Institute of Medical and Veterinary Science, University of Adelaide, P.O. Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia.

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http://www.nature.com/doifinder/10.1007/s10038-004-0145-4
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http://dx.doi.org/10.1007/s10038-004-0145-4DOI Listing
July 2004