John A Phillips

John A Phillips

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John A Phillips

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
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http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Phenotypic heterogeneity of ZMPSTE24 deficiency.

Am J Med Genet A 2018 05 17;176(5):1175-1179. Epub 2018 Jan 17.

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.

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http://dx.doi.org/10.1002/ajmg.a.38493DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911413PMC
May 2018

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia.

BMC Bioinformatics 2018 01 23;19(1):18. Epub 2018 Jan 23.

Department of Biological Sciences, Vanderbilt Genetics Institute, and Center for Structural Biology, Vanderbilt University, Nashville, USA.

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http://dx.doi.org/10.1186/s12859-018-2010-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5781290PMC
January 2018

Nano-Calorimetry based point of care biosensor for metabolic disease management.

Biomed Microdevices 2017 Sep;19(3):50

Department of Biomedical Engineering, Vanderbilt University, 5824 Stevenson Center, Nashville, TN, 37235, USA.

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http://dx.doi.org/10.1007/s10544-017-0181-4DOI Listing
September 2017

Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of families.

Fertil Steril 2017 07 7;108(1):145-151.e2. Epub 2017 Jun 7.

Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Medical College of Georgia, Augusta University, Augusta, Georgia; Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, Georgia; Department of Physiology, Medical College of Georgia, Augusta University, Augusta, Georgia. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770980PMC
July 2017

A newborn with severe skeletal dysplasia.

Arch Dis Child Educ Pract Ed 2016 Jun 25;101(3):147. Epub 2015 Aug 25.

Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1136/archdischild-2015-308719DOI Listing
June 2016

Answers to Epilogue questions.

Arch Dis Child Educ Pract Ed 2016 Jun;101(3):168

Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1136/archdischild-2015-308719aDOI Listing
June 2016

Estrogen Metabolite 16α-Hydroxyestrone Exacerbates Bone Morphogenetic Protein Receptor Type II-Associated Pulmonary Arterial Hypertension Through MicroRNA-29-Mediated Modulation of Cellular Metabolism.

Circulation 2016 Jan 20;133(1):82-97. Epub 2015 Oct 20.

From Departments of Medicine (X.C., M.T., J.P.F., A.R.H., S.G., J.F., S.S., L.A.W., J.E.L., S.J.M., J.W.), Pharmacology (J.P.F.), Pediatrics (J.A.P., R.H., J..C., L.K.H.), and Pathology (E.G.M.), Vanderbilt University Medical Center, Nashville, TN; Department of Medicine, Baylor College of Medicine, Houston, TX (A.T.); and Bioventures, Inc, Murfreesboro, TN (E.P.D., K.E.W.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.016133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698046PMC
January 2016

Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension.

Nat Commun 2015 Apr 15;6:6863. Epub 2015 Apr 15.

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1038/ncomms7863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399003PMC
April 2015

A Novel SHOC2 Variant in Rasopathy.

Hum Mutat 2014 Nov 11;35(11):1290-4. Epub 2014 Sep 11.

Division of Medical Genetics and Genomic Medicine, Vanderbilt University, Nashville, Tennessee.

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http://dx.doi.org/10.1002/humu.22634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265PMC
November 2014

Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.

J Craniofac Surg 2013 ;24(5):1829-32

From the *Department of Pediatrics, and †Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.

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http://dx.doi.org/10.1097/SCS.0b013e3182997df5DOI Listing
September 2014

A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia.

Chest 2014 Jul;146(1):e1-e7

Department of Medicine, Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Vanderbilt University School of Medicine, Nashville, TN.

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http://dx.doi.org/10.1378/chest.13-2224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4077414PMC
July 2014

SHC2 gene copy number in multiple system atrophy (MSA).

Clin Auton Res 2014 Feb 30;24(1):25-30. Epub 2013 Oct 30.

Autonomic Dysfunction Center, Department of Medicine, Vanderbilt University, AA3228 Medical Center North, Nashville, TN, 37232-2195, USA,

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http://dx.doi.org/10.1007/s10286-013-0216-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3946192PMC
February 2014

Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Am J Hum Genet 2014 Feb 16;94(2):278-87. Epub 2014 Jan 16.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin, 13353 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité Universitätsmedizin, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(13)00582-X.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971300582
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http://dx.doi.org/10.1016/j.ajhg.2013.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928656PMC
February 2014

Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension.

Am J Respir Crit Care Med 2012 Nov 23;186(9):892-6. Epub 2012 Aug 23.

Vanderbilt University Institute for Medicine and Public Health, Vanderbilt Medical Center North, Nashville, TN 37232-2650, USA.

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http://dx.doi.org/10.1164/rccm.201205-0886OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3530218PMC
November 2012

Telomerase deficiency does not alter bleomycin-induced fibrosis in mice.

Exp Lung Res 2012 Apr;38(3):124-34

Department of Medicine, Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2650, USA.

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http://dx.doi.org/10.3109/01902148.2012.658148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046256PMC
April 2012

Genetic approach to evaluation of hearing loss.

Otolaryngol Clin North Am 2012 Feb 1;45(1):25-39. Epub 2011 Nov 1.

Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, DD-2205 Medical Center North, Nashville, TN 37232-2578, USA.

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http://dx.doi.org/10.1016/j.otc.2011.08.015DOI Listing
February 2012

Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.

Clin Transl Sci 2011 Jun;4(3):175-9

Department of Pathology, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

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http://doi.wiley.com/10.1111/j.1752-8062.2011.00290.x
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http://dx.doi.org/10.1111/j.1752-8062.2011.00290.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5439858PMC
June 2011

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.

J Med Genet 2011 May 17;48(5):327-33. Epub 2011 Mar 17.

Department of Oncology, Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, 1650 Orleans St., CRB 186, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1136/jmg.2010.085100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3088476PMC
May 2011

Burkitt's lymphoma: maximising the use of fine needle aspirates by long-term preservation for diagnosis and research.

Trans R Soc Trop Med Hyg 2011 Feb 18;105(2):86-94. Epub 2010 Dec 18.

Department of Histopathology, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 ONN, UK.

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http://dx.doi.org/10.1016/j.trstmh.2010.11.001DOI Listing
February 2011

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

J Clin Endocrinol Metab 2009 Dec 16;94(12):4728-34. Epub 2009 Oct 16.

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2009-0746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795644PMC
December 2009

Genetics of pulmonary arterial hypertension.

Semin Respir Crit Care Med 2009 Aug 24;30(4):386-98. Epub 2009 Jul 24.

Department of Pediatrics, Division of Pulmonary, Allergy, and Immunology Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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http://dx.doi.org/10.1055/s-0029-1233308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3737593PMC
August 2009

Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB.

J Clin Endocrinol Metab 2009 Jul 5;94(7):2565-70. Epub 2009 May 5.

Division of Endocrinology, Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1210/jc.2009-0512DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708943PMC
July 2009

Genetics and genomics of pulmonary arterial hypertension.

J Am Coll Cardiol 2009 Jun;54(1 Suppl):S32-42

Department of Medical and Molecular Genetics, King's College London School of Medicine, Guy's Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jacc.2009.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3725550PMC
June 2009

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Hum Mutat 2009 Apr;30(4):649-54

Department of Pediatrics, Division of Medical Genetics, Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.

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http://dx.doi.org/10.1002/humu.20922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663001PMC
April 2009

The enteropathy of prostaglandin deficiency.

J Gastroenterol 2009 16;44 Suppl 19:1-7. Epub 2009 Jan 16.

Department of Medicine, Division of Clinical Pharmacology, Vanderbilt University, Vanderbilt Medical Center, 1211 Medical Center Drive, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1007/s00535-008-2253-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799331PMC
March 2009

CB1 expression is attenuated in Fallopian tube and decidua of women with ectopic pregnancy.

PLoS One 2008 18;3(12):e3969. Epub 2008 Dec 18.

Department of Reproductive and Developmental Sciences, University of Edinburgh, Centre for Reproductive Biology, Queen's Medical Research Institute, Edinburgh, UK.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0003969PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601032PMC
February 2009

Short telomeres are a risk factor for idiopathic pulmonary fibrosis.

Proc Natl Acad Sci U S A 2008 Sep 27;105(35):13051-6. Epub 2008 Aug 27.

Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1073/pnas.0804280105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2529100PMC
September 2008

Growth hormone deficiency and splicing fidelity: two serine/arginine-rich proteins, ASF/SF2 and SC35, act antagonistically.

J Biol Chem 2008 Aug 27;283(35):23619-26. Epub 2008 Jun 27.

Department of Biological Sciences, Vanderbilt University, 2301 Vanderbilt Pl., Nashville, TN 37235, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M710175200
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http://dx.doi.org/10.1074/jbc.M710175200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2527097PMC
August 2008

Narrative review: the enigma of pulmonary arterial hypertension: new insights from genetic studies.

Ann Intern Med 2008 Feb;148(4):278-83

Division of Pulmonary and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2650, USA.

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http://dx.doi.org/10.7326/0003-4819-148-4-200802190-00006DOI Listing
February 2008

Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension.

Am J Respir Crit Care Med 2008 Jan 11;177(1):99-107. Epub 2007 Oct 11.

Department of Pathology, Vanderbilt University Medical Center, MCN T-1218, Nashville, TN 37232-2650, USA.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200703-499OC
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http://dx.doi.org/10.1164/rccm.200703-499OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2176118PMC
January 2008

Pilot study of sodium phenylbutyrate as adjuvant in cyclophosphamide-resistant endemic Burkitt's lymphoma.

Trans R Soc Trop Med Hyg 2007 Dec 29;101(12):1265-9. Epub 2007 Oct 29.

Paediatric Department, Kamuzu Central Hospital, Box 149, Lilongwe, Malawi.

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http://dx.doi.org/10.1016/j.trstmh.2007.06.020DOI Listing
December 2007

A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: a novel missense mutation in the initiation codon and a 7.6kb deletion.

Growth Horm IGF Res 2007 Jun 13;17(3):249-53. Epub 2007 Mar 13.

Department of Genetics, Division of Stress Adaptation and Protection, Research Institute of Environmental Medicine, Nagoya University, Furo-cho, Chikusa-ku, Nagoya 464-8601, Japan.

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http://dx.doi.org/10.1016/j.ghir.2007.01.019DOI Listing
June 2007

Is Burkitt's lymphoma sexy enough?

Authors:
John A Phillips

Lancet 2006 Dec;368(9554):2251-2

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http://dx.doi.org/10.1016/S0140-6736(06)69898-XDOI Listing
December 2006

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Am J Respir Crit Care Med 2006 Sep 25;174(5):590-8. Epub 2006 May 25.

Division of Medical Genetics, Vanderbilt University Medical University Medical Center, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1164/rccm.200602-165OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2648061PMC
September 2006

New methods in genetic diagnosis including prenatal diagnosis.

Pediatr Endocrinol Rev 2006 Aug;3 Suppl 3:424-33; discussion 434-6

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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August 2006

Serotonin transporter polymorphisms in familial and idiopathic pulmonary arterial hypertension.

Am J Respir Crit Care Med 2006 Apr 9;173(7):798-802. Epub 2005 Dec 9.

Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Medical Center North T-1218, Nashville, TN 37232-2650, USA.

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http://dx.doi.org/10.1164/rccm.200509-1361OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2662954PMC
April 2006

Aberrant signal transduction in pulmonary hypertension.

Chest 2005 Dec;128(6 Suppl):564S-565S

Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.

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http://dx.doi.org/10.1378/chest.128.6_suppl.564S-aDOI Listing
December 2005

Clinical and pathologic features of familial interstitial pneumonia.

Am J Respir Crit Care Med 2005 Nov 18;172(9):1146-52. Epub 2005 Aug 18.

Division of Pulmonary, Allergy, and Critical Care Medicine, Department of Medicine, Department of Pathology, Duke University Medical Center, Durham, NC 27710, USA.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200408-1104O
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http://dx.doi.org/10.1164/rccm.200408-1104OCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2718398PMC
November 2005

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Genet Med 2005 Mar;7(3):169-74

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee 37232-2578, USA.

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http://dx.doi.org/10.1097/01.gim.0000156525.09595.e9DOI Listing
March 2005

Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.

Pediatrics 2004 Oct;114(4):e532-5

Division of Pediatric Nephrology, Vanderbilt University Medical Center, C-4204 Medical Center North, Nashville, TN 37232-2584, USA.

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http://dx.doi.org/10.1542/peds.2003-0988-LDOI Listing
October 2004

GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA).

Endocrinology 2004 Jun 26;145(6):2988-96. Epub 2004 Feb 26.

Box 1820 Station B, Department of Biological Sciences, Vanderbilt University, Nashville, Tennessee 37235, USA.

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https://academic.oup.com/endo/article-lookup/doi/10.1210/en.
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http://dx.doi.org/10.1210/en.2003-1724DOI Listing
June 2004

Genetics of growth retardation.

Authors:
John A Phillips

J Pediatr Endocrinol Metab 2004 Mar;17 Suppl 3:385-99

Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578, USA.

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March 2004

The role of genetics in pediatric endocrinology.

Pediatr Endocrinol Rev 2004 Mar;1(3):262-73

Adult and Pediatric Endocrinology, Division of Endocrinology, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN, USA.

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March 2004

Dominant-negative diabetes insipidus and other endocrinopathies.

Authors:
John A Phillips

J Clin Invest 2003 Dec;112(11):1641-3

Division of Medical Genetics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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http://dx.doi.org/10.1172/JCI20441DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC281655PMC
December 2003

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.

Hum Genet 2003 Jul 29;113(2):140-8. Epub 2003 Apr 29.

Box 1820 Station B, Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA.

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http://link.springer.de/link/service/journals/00439/contents
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http://dx.doi.org/10.1007/s00439-003-0949-xDOI Listing
July 2003

Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.

Am J Respir Crit Care Med 2003 Mar 21;167(6):889-94. Epub 2002 Nov 21.

Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, T-1217 Medical Center North, Nashville, TN 37232-2650, USA.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200208-861OC
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http://dx.doi.org/10.1164/rccm.200208-861OCDOI Listing
March 2003

GH Gene Deletions and IGHD type IA.

Rev Endocr Metab Disord 2002 Dec;3(4):339-46

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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http://dx.doi.org/10.1023/a:1020953608174DOI Listing
December 2002

Mutations of the GH gene.

Authors:
John A Phillips

J Pediatr Endocrinol Metab 2002 Dec;15 Suppl 5:1435-6

Department of Pediatrics and Biochemistry, Vanderbilt University School of Medicine, Nashville, TN 37232-2578, USA.

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December 2002

Detection of a recurring mutation in the human growth hormone-releasing hormone receptor gene.

Clin Endocrinol (Oxf) 2002 Jul;57(1):77-80

Department of Medicine and The Ilyssa Center for Molecular and Cellular Endocrinology, The Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1046/j.1365-2265.2002.01565.xDOI Listing
July 2002

Allelic imbalance demonstrated by microsatellite analysis of lung samples from patients with familial pulmonary fibrosis.

Chest 2002 Mar;121(3 Suppl):25S

Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.

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March 2002

Specific bone morphogenic protein receptor II mutations found in primary pulmonary hypertension cause different biochemical phenotypes in vitro.

Chest 2002 Mar;121(3 Suppl):83S

Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.

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March 2002

An exon splice enhancer mutation causes autosomal dominant GH deficiency.

J Clin Endocrinol Metab 2002 Feb;87(2):847-52

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.

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http://dx.doi.org/10.1210/jcem.87.2.8236DOI Listing
February 2002

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Hum Genet 2002 Jan 7;110(1):68-74. Epub 2001 Dec 7.

Department of Biochemistry, Medical Center Vanderbilt University, 620 Light Hall, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1007/s00439-001-0648-4DOI Listing
January 2002

FAMILIAL LARYNGEAL WEB IN THREE GENERATIONS WITH PROBABLE AUTOSOMAL DOMINANT TRANSMISSION.

Dysmorphol Clin Genet 1988 ;2:9-12

Division of Genetics, (SMS, MGB, JAP), Department of Pediatrics (JWC), and Department of Otolaryngology (JLN), Vanderbilt University School of Medicine, Nashville, TN and Bowling Green, KY (WTM).

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289452PMC
January 1988