Donna M Martin

Donna M Martin

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Neural crest contributions to the ear: Implications for congenital hearing disorders.

Hear Res 2019 May 14;376:22-32. Epub 2018 Nov 14.

Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, MI, USA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03785955183041
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http://dx.doi.org/10.1016/j.heares.2018.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6456423PMC
May 2019

Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of the Mutant Mouse Ear.

Front Genet 2018 23;9:473. Epub 2018 Oct 23.

Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, United States.

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http://dx.doi.org/10.3389/fgene.2018.00473DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232929PMC
October 2018

Balancing dual demands on the physician-scientist workforce.

J Clin Invest 2018 08 16;128(8):3204-3205. Epub 2018 Jul 16.

Laboratory of Systems Cancer Biology, Rockefeller University, New York, New York, USA.

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http://dx.doi.org/10.1172/JCI122099DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063500PMC
August 2018

Oligodendrocyte precursor survival and differentiation requires chromatin remodeling by Chd7 and Chd8.

Proc Natl Acad Sci U S A 2018 08 14;115(35):E8246-E8255. Epub 2018 Aug 14.

Institut du Cerveau et de la Moelle Épinière, INSERM U1127, CNRS UMR 7225, GH Pitié-Salpêtrière, Sorbonne Université, 75013 Paris, France;

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http://dx.doi.org/10.1073/pnas.1802620115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126750PMC
August 2018

Dual Requirement of CHD8 for Chromatin Landscape Establishment and Histone Methyltransferase Recruitment to Promote CNS Myelination and Repair.

Dev Cell 2018 06;45(6):753-768.e8

Key Laboratory of Birth Defects, Children's Hospital of Fudan University, Shanghai 201102, China; Department of Pediatrics, Brain Tumor Center, Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2018.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063525PMC
June 2018

Atopic disorders in CHARGE syndrome: A retrospective study and literature review.

Eur J Med Genet 2018 Apr 27;61(4):225-229. Epub 2017 Nov 27.

Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, Ann Arbor, MI, USA; Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, MI, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.11.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849503PMC
April 2018

Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.

Mol Cell Neurosci 2018 03 28;87:46-54. Epub 2017 Nov 28.

Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, MI 48109, United States; Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, Ann Arbor, MI 48109, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2017.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828982PMC
March 2018

Chromatin in nervous system development and disease.

Mol Cell Neurosci 2018 03 15;87:1-3. Epub 2017 Dec 15.

Department of Pediatrics, The University of Michigan Medical School, Ann Arbor, MI, 48109, United States. Electronic address:

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http://dx.doi.org/10.1016/j.mcn.2017.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591722PMC
March 2018

Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.

Proc Natl Acad Sci U S A 2018 01 8;115(4):E620-E629. Epub 2018 Jan 8.

Molecular Genetics of Development Laboratory, Department of Biological Sciences, University of Quebec at Montreal, Montreal, QC H2X 3Y7, Canada;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1715378115
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http://dx.doi.org/10.1073/pnas.1715378115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5789929PMC
January 2018

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.

Am J Med Genet C Semin Med Genet 2017 12 30;175(4):439-449. Epub 2017 Oct 30.

Department of Otolaryngology-Head and Neck Surgery, The University of Michigan Medical School, Ann Arbor, Michigan.

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http://doi.wiley.com/10.1002/ajmg.c.31587
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http://dx.doi.org/10.1002/ajmg.c.31587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5726934PMC
December 2017

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

Am J Med Genet C Semin Med Genet 2017 12 24;175(4):397-406. Epub 2017 Nov 24.

Departments of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.c.31592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591023PMC
December 2017

Support for the Diagnosis of CHARGE Syndrome.

JAMA Otolaryngol Head Neck Surg 2017 06;143(6):634-635

Departments of Pediatrics and Communicable Diseases and of Human Genetics, University of Michigan Medical School, Ann Arbor.

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http://dx.doi.org/10.1001/jamaoto.2016.4762DOI Listing
June 2017

The influence of 5-HTTLPR transporter genotype on amygdala-subgenual anterior cingulate cortex connectivity in autism spectrum disorder.

Dev Cogn Neurosci 2017 04 23;24:12-20. Epub 2016 Dec 23.

Department of Psychology, Neuroscience Program, Department of Psychiatry, Center for Growth and Human Development, University of Michigan, United States.

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http://dx.doi.org/10.1016/j.dcn.2016.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858904PMC
April 2017

It's All in the Delivery: Improving AAV Transfection Efficiency with Exosomes.

Mol Ther 2017 02 23;25(2):309-311. Epub 2017 Jan 23.

Kresge Hearing Research Institute, Department of Otolaryngology - Head and Neck Surgery, The University of Michigan, 9220B MSRB-III, Ann Arbor, MI 48109-5648. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.01.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5368841PMC
February 2017

Response to correspondence to Hale et al. atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Am J Med Genet A 2016 Dec 21;170(12):3367-3368. Epub 2016 Mar 21.

Medical Scientist Training Program, The University of Michigan Medical School, Ann Arbor, Michigan.

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http://doi.wiley.com/10.1002/ajmg.a.37629
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http://dx.doi.org/10.1002/ajmg.a.37629DOI Listing
December 2016

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Am J Med Genet A 2016 May 6;170A(5):1148-54. Epub 2016 Feb 6.

Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.37592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117441PMC
May 2016

Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination.

Nat Neurosci 2016 05 29;19(5):678-689. Epub 2016 Feb 29.

Department of Pediatrics, Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1038/nn.4258DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4846514PMC
May 2016

12th International CHARGE syndrome conference proceedings.

Am J Med Genet A 2016 Apr 11;170A(4):856-69. Epub 2016 Jan 11.

Saint Louis University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37544DOI Listing
April 2016

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Am J Med Genet A 2016 Feb 21;170A(2):344-354. Epub 2015 Nov 21.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.37435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102387PMC
February 2016

Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.

Invest Ophthalmol Vis Sci 2015 Dec;56(13):7923-30

Department of Pediatrics, University of Michigan Medical School, Ann Arbor, Michigan, United States 4Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.15-18069DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682606PMC
December 2015

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.

Am J Med Genet A 2015 Nov 31;167A(11):2664-73. Epub 2015 Jul 31.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.37269DOI Listing
November 2015

Super Enhancers in Cancers, Complex Disease, and Developmental Disorders.

Genes (Basel) 2015 Nov 9;6(4):1183-200. Epub 2015 Nov 9.

Medical Scientist Training Program, Medical School, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.3390/genes6041183DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690034PMC
November 2015

Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases.

Stem Cells Dev 2015 Apr 25;24(8):917-26. Epub 2015 Feb 25.

1 Division of Hematology, Children's Hospital of Philadelphia , Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1089/scd.2014.0544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390162PMC
April 2015

Epigenetic Developmental Disorders: CHARGE syndrome, a case study.

Authors:
Donna M Martin

Curr Genet Med Rep 2015 Mar;3(1):1-7

Department of Human Genetics at The University of Michigan Medical School, Ann Arbor, MI, 48109 ; Department of Pediatrics and Communicable Diseases at The University of Michigan Medical School, Ann Arbor, MI, 48109.

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http://dx.doi.org/10.1007/s40142-014-0059-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4325366PMC
March 2015

Axial level-specific regulation of neuronal development: lessons from PITX2.

J Neurosci Res 2015 Feb 14;93(2):195-8. Epub 2014 Aug 14.

Cellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/jnr.23471DOI Listing
February 2015

Inappropriate p53 activation during development induces features of CHARGE syndrome.

Nature 2014 Oct 3;514(7521):228-32. Epub 2014 Aug 3.

1] Department of Radiation Oncology, Division of Radiation and Cancer Biology, Stanford University School of Medicine, Stanford, California 94305, USA [2] Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1038/nature13585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4192026PMC
October 2014

The chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal development.

Dev Dyn 2014 Sep 10;243(9):1055-66. Epub 2014 Jul 10.

Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan; The Medical School, The University of Michigan, Ann Arbor, Michigan; Medical Scientist Training Program, The University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/dvdy.24156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4160830PMC
September 2014

CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.

Otol Neurotol 2014 Sep;35(8):1466-70

*University of Michigan Department of Otolaryngology-Head and Neck Surgery, Division of Pediatric Otolaryngology, †University of Michigan Medical School, ‡University of Michigan Department of Human Genetics, §University of Michigan Department of Radiology, and ∥University of Michigan Departments of Pediatrics and Human Genetics, University of Michigan Health System, Ann Arbor, Michigan, U.S.A.

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http://dx.doi.org/10.1097/MAO.0000000000000260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166654PMC
September 2014

Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1-q24.2 contiguous gene deletion.

Am J Med Genet A 2014 Aug 9;164A(8):2062-8. Epub 2014 Apr 9.

Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.36569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266592PMC
August 2014

Serotonin transporter genotype impacts amygdala habituation in youth with autism spectrum disorders.

Soc Cogn Affect Neurosci 2014 Jun 22;9(6):832-8. Epub 2013 Mar 22.

Department of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USADepartment of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USADepartment of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USADepartment of Psychology, Department of Pediatrics, Neuroscience Program, Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA, Department of Psychiatry, Weill Cornell Medical College, New York, NY, USA, and Department of Psychiatry and Center for Human Growth and Development, University of Michigan, Ann Arbor, MI, USA.

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http://www.psychology.sdsu.edu/wp-content/uploads/2015/08/3_
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http://scan.oxfordjournals.org/lookup/doi/10.1093/scan/nst03
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http://dx.doi.org/10.1093/scan/nst039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4040086PMC
June 2014

C-terminals in the mouse branchiomotor nuclei originate from the magnocellular reticular formation.

Neurosci Lett 2013 Aug 10;548:137-42. Epub 2013 Jun 10.

Department of Anatomy and Neurobiology, National Defense Medical College, Tokorozawa, Saitama 359-8513, Japan.

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http://dx.doi.org/10.1016/j.neulet.2013.05.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776024PMC
August 2013

Pleiotropic and isoform-specific functions for Pitx2 in superior colliculus and hypothalamic neuronal development.

Mol Cell Neurosci 2013 Jan 10;52:128-39. Epub 2012 Nov 10.

Cellular and Molecular Biology Graduate Program, 2966 Taubman Medical Library, University of Michigan, Ann Arbor, MI 48109-0619, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10447431120020
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http://dx.doi.org/10.1016/j.mcn.2012.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3540135PMC
January 2013

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Pediatr Neurol 2013 Jan;48(1):67-72

Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535688PMC
January 2013

Have you heard? Viral-mediated gene therapy restores hearing.

Neuron 2012 Jul;75(2):188-90

Department of Pediatrics, The University of Michigan, Ann Arbor, MI 48109, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S089662731200568
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http://dx.doi.org/10.1016/j.neuron.2012.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4502432PMC
July 2012

A novel TaulacZ allele reveals a requirement for Pitx2 in formation of the mammillothalamic tract.

Genesis 2012 Jan 6;50(1):67-73. Epub 2012 Jan 6.

Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-5652, USA.

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http://dx.doi.org/10.1002/dvg.20793DOI Listing
January 2012

Distinct populations of GABAergic neurons in mouse rhombomere 1 express but do not require the homeodomain transcription factor PITX2.

Mol Cell Neurosci 2012 Jan 10;49(1):32-43. Epub 2011 Sep 10.

Program in Cell and Molecular Biology, 2966 Taubman Medical Library, University of Michigan, Ann Arbor, MI 48109-0619, USA.

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http://dx.doi.org/10.1016/j.mcn.2011.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244529PMC
January 2012

Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.

Hum Mol Genet 2011 Aug 19;20(16):3138-50. Epub 2011 May 19.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109-5652, USA.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddr216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3140819PMC
August 2011

Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling.

Development 2011 Aug;138(15):3199-211

Department of Cell and Developmental Biology, University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1242/dev.057281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133912PMC
August 2011

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neuron 2011 Jun;70(5):863-85

Program on Neurogenetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1016/j.neuron.2011.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939065PMC
June 2011

Chromatin remodeling in development and disease: focus on CHD7.

Authors:
Donna M Martin

PLoS Genet 2010 Jul 15;6(7):e1001010. Epub 2010 Jul 15.

Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1001010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904764PMC
July 2010

Duplication 16p11.2 in a child with infantile seizure disorder.

Am J Med Genet A 2010 Jun;152A(6):1567-74

Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109-5652, USA.

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http://dx.doi.org/10.1002/ajmg.a.33415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3160635PMC
June 2010

Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

Am J Med Genet A 2010 Mar;152A(3):674-86

Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33323
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http://dx.doi.org/10.1002/ajmg.a.33323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918278PMC
March 2010

A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.

Am J Med Genet A 2009 Mar;149A(3):396-402

Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109-5241, USA.

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http://deepblue.lib.umich.edu/bitstream/handle/2027.42/61892
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http://doi.wiley.com/10.1002/ajmg.a.32691
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http://dx.doi.org/10.1002/ajmg.a.32691DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872113PMC
March 2009

Cre fate mapping reveals lineage specific defects in neuronal migration with loss of Pitx2 function in the developing mouse hypothalamus and subthalamic nucleus.

Mol Cell Neurosci 2008 Apr 15;37(4):696-707. Epub 2007 Dec 15.

Department of Pediatrics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA.

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http://dx.doi.org/10.1016/j.mcn.2007.12.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2386145PMC
April 2008

Characterization of progenitor domains in the developing mouse thalamus.

J Comp Neurol 2007 Nov;505(1):73-91

Department of Neuroscience, University of Minnesota, Minneapolis, Minnesota 55455, USA.

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http://doi.wiley.com/10.1002/cne.21467
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http://dx.doi.org/10.1002/cne.21467DOI Listing
November 2007

Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome.

J Comp Neurol 2007 Oct;504(5):519-32

Department of Otolaryngology, The University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://doi.wiley.com/10.1002/cne.21460
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http://dx.doi.org/10.1002/cne.21460DOI Listing
October 2007

The 20th International Mammalian Genome Conference meeting report.

Mamm Genome 2007 Mar 10;18(3):145-53. Epub 2007 Apr 10.

Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan 48109, USA.

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http://link.springer.com/10.1007/s00335-007-9005-9
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http://dx.doi.org/10.1007/s00335-007-9005-9DOI Listing
March 2007

Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.

Mamm Genome 2007 Feb 28;18(2):94-104. Epub 2007 Feb 28.

Department of Pediatrics, The University of Michigan Medical Center, Ann Arbor, Michigan 48109-0652, USA.

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http://dx.doi.org/10.1007/s00335-006-0107-6DOI Listing
February 2007

Nestin-Cre mediated deletion of Pitx2 in the mouse.

Genesis 2006 Jul;44(7):336-44

Molecular, Cellular and Developmental Biology Graduate Program, Yale College of Medicine, New Haven, Connecticut, USA.

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http://dx.doi.org/10.1002/dvg.20220DOI Listing
July 2006

Genetics of subthalamic nucleus in development and disease.

Exp Neurol 2005 Apr;192(2):320-30

Department of Pediatrics, The University of Michigan, Ann Arbor, MI 48109, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S001448860400439
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http://dx.doi.org/10.1016/j.expneurol.2004.11.008DOI Listing
April 2005

PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter.

J Cell Sci 2005 Mar 22;118(Pt 6):1129-37. Epub 2005 Feb 22.

Department of Biological Science, The University of Tulsa, 600 S College Ave., Tulsa, OK 74104-3189, USA.

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http://dx.doi.org/10.1242/jcs.01706DOI Listing
March 2005

Brain glutamine by MRS in a patient with urea cycle disorder and coma.

Pediatr Neurol 2005 Feb;32(2):143-6

Department of Pediatrics, the University of Michigan School of Medicine, Ann Arbor, MI 48109-0203, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940400407
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http://dx.doi.org/10.1016/j.pediatrneurol.2004.07.013DOI Listing
February 2005

Gene-based diagnostic and treatment methods for tinnitus.

Int Tinnitus J 2003 ;9(1):3-10

Departments of Pediatric Genetics and Human Genetics, University of Michigan, 9220B MSRB-3, Ann Arbor, MI 48109-0648, USA.

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March 2004

PITX2 is required for normal development of neurons in the mouse subthalamic nucleus and midbrain.

Dev Biol 2004 Mar;267(1):93-108

Department of Pediatrics and Communicable Diseases, The University of Michigan, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1016/j.ydbio.2003.10.035DOI Listing
March 2004

Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia.

Hum Mol Genet 2003 Nov 9;12(21):2797-805. Epub 2003 Sep 9.

Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109-0638, USA.

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http://dx.doi.org/10.1093/hmg/ddg308DOI Listing
November 2003

Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet.

Diabetes 2003 Oct;52(10):2503-12

Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.2337/diabetes.52.10.2503DOI Listing
October 2003

Characterization of a stapes ankylosis family with a NOG mutation.

Otol Neurotol 2003 Mar;24(2):210-5

Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, Michigan 48109, USA.

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March 2003

Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion.

Am J Med Genet A 2003 Jan;116A(3):268-71

Department of Pediatrics and Communicable Diseases, University of Michigan Medical School, Ann Arbor, Michigan 48109-0688, USA.

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http://dx.doi.org/10.1002/ajmg.a.10064DOI Listing
January 2003

Pitx2 distinguishes subtypes of terminally differentiated neurons in the developing mouse neuroepithelium.

Dev Biol 2002 Dec;252(1):84-99

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, 48109, USA.

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http://dx.doi.org/10.1006/dbio.2002.0835DOI Listing
December 2002

Exclusion of PITX2 mutations as a major cause of CHARGE association.

Am J Med Genet 2002 Jul;111(1):27-30

Department of Pediatrics, The University of Michigan Medical School, Ann Arbor 48109-0688, USA.

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http://dx.doi.org/10.1002/ajmg.10473DOI Listing
July 2002