Publications by authors named "Angela Huebner"

91Publications

Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency.

J Steroid Biochem Mol Biol 2020 Nov 9;204:105734. Epub 2020 Aug 9.

Medizinische Klinik and Poliklinik IV, Klinikum der Universität München, LMU München, Munich, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2020.105734DOI Listing
November 2020

Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.

Neurogastroenterol Motil 2020 Jun 22:e13923. Epub 2020 Jun 22.

Medizinische Fakultät Carl Gustav Carus, Children's Hospital, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1111/nmo.13923DOI Listing
June 2020

Cancer Stem Cells in Pheochromocytoma and Paraganglioma.

Front Endocrinol (Lausanne) 2020 25;11:79. Epub 2020 Feb 25.

Department of Internal Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.3389/fendo.2020.00079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7051940PMC
February 2020

Neurological Phenotypes Associated with AAAS-Related Disorders: Spastic Ataxia and Complex Spastic Paraplegia.

Cerebellum 2020 Jun;19(3):465-468

Medical Genetics Division, Hospital de Clínicas de Porto Alegre (HCPA), Rua Ramiro Barcelos 2350, Porto Alegre, RS, Zip Code 90.035-903, Brazil.

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http://dx.doi.org/10.1007/s12311-020-01123-9DOI Listing
June 2020

A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome.

Am J Med Genet A 2020 03 11;182(3):570-575. Epub 2019 Dec 11.

Interdisciplinary Pediatric Center for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Center Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61435DOI Listing
March 2020

Biochemical testing for neuroblastoma using plasma free 3-O-methyldopa, 3-methoxytyramine, and normetanephrine.

Pediatr Blood Cancer 2020 02 14;67(2):e28081. Epub 2019 Nov 14.

Institute of Clinical Chemistry and Laboratory Medicine, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1002/pbc.28081DOI Listing
February 2020

Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.

Neuropediatrics 2020 02 18;51(1):72-75. Epub 2019 Oct 18.

Charité-Universitätsmedizin Berlin, Klinik für Pädiatrie mit Schwerpunkt Neurologie, Augustenburger Platz 1, Berlin, Germany.

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http://dx.doi.org/10.1055/s-0039-1695787DOI Listing
February 2020

Homozygous deletion of the entire AAAS gene in a triple A syndrome patient.

Eur J Med Genet 2019 Jul 6;62(7):103665. Epub 2019 May 6.

Children's Hospital, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1016/j.ejmg.2019.05.004DOI Listing
July 2019

Age-specific pediatric reference intervals for plasma free normetanephrine, metanephrine, 3-methoxytyramine and 3-O-methyldopa: Particular importance for early infancy.

Clin Chim Acta 2019 Jul 20;494:100-105. Epub 2019 Mar 20.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Medical Faculty Carl Gustav Carus, Dresden, Germany.

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http://dx.doi.org/10.1016/j.cca.2019.03.1620DOI Listing
July 2019

Triple A patient cells suffering from mitotic defects fail to localize PGRMC1 to mitotic kinetochore fibers.

Cell Div 2018 10;13. Epub 2018 Nov 10.

1Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, 01307 Dresden, Germany.

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http://dx.doi.org/10.1186/s13008-018-0041-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230297PMC
November 2018

Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation.

Neuromuscul Disord 2018 08 17;28(8):625-632. Epub 2018 May 17.

Department of Neurology, University Hospital "Alexandrovska", Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.nmd.2018.05.005DOI Listing
August 2018

Compensation for chronic oxidative stress in ALADIN null mice.

Biol Open 2018 Jan 23;7(1). Epub 2018 Jan 23.

Klinik und Poliklinik für Kinder-und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden 01307, Germany.

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http://dx.doi.org/10.1242/bio.030742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829508PMC
January 2018

"Crying without tears" as an early diagnostic sign-post of triple A (Allgrove) syndrome: two case reports.

BMC Pediatr 2018 01 15;18(1). Epub 2018 Jan 15.

Department of Pediatrics, Medizinische Fakultät, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1186/s12887-017-0973-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5769402PMC
January 2018

Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.

J Med Genet 2018 02 24;55(2):81-85. Epub 2017 Nov 24.

Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan.

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http://dx.doi.org/10.1136/jmedgenet-2017-105020DOI Listing
February 2018

ALADIN is required for the production of fertile mouse oocytes.

Mol Biol Cell 2017 Sep 2;28(19):2470-2478. Epub 2017 Aug 2.

Centre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom

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http://dx.doi.org/10.1091/mbc.E16-03-0158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597320PMC
September 2017

Identification of a novel putative interaction partner of the nucleoporin ALADIN.

Biol Open 2016 Nov 15;5(11):1697-1705. Epub 2016 Nov 15.

Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden 01307, Germany.

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http://dx.doi.org/10.1242/bio.021162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155539PMC
November 2016

Long-Term Outcomes, Genetics, and Pituitary Morphology in Patients with Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiencies: A Single-Centre Experience of Four Decades of Growth Hormone Replacement.

Horm Res Paediatr 2016 3;86(2):106-116. Epub 2016 Aug 3.

Division of Paediatric Endocrinology and Diabetology, Children's Hospital, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1159/000448098DOI Listing
April 2017

A Comparative Case Study of Risk, Resiliency, and Coping Among Injured National Guard.

Mil Med 2016 05;181(5 Suppl):70-6

Michigan State University, 522 West Circle Drive, 3B Human Ecology, East Lansing, MI 48824.

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http://dx.doi.org/10.7205/MILMED-D-15-00126DOI Listing
May 2016

Novel Mutations in a Patient with Triple A Syndrome.

Indian Pediatr 2015 Sep;52(9):805-6

Department of Pediatrics and *Central Research Laboratory, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India; and Klinik fur Kinder- und Jugendmedizin, Technische Universitat Dresden, Germany. Correspondence to: Dr Jyoti Sanghvi, Department of Pediatrics, Sri Aurobindo Medical College and PG Institute, Indore, Madhya Pradesh, India.

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http://dx.doi.org/10.1007/s13312-015-0722-yDOI Listing
September 2015

The nucleoporin ALADIN regulates Aurora A localization to ensure robust mitotic spindle formation.

Mol Biol Cell 2015 Oct 5;26(19):3424-38. Epub 2015 Aug 5.

Centre for Gene Regulation and Expression, University of Dundee, College of Life Sciences, Dundee DD1 5EH, United Kingdom Physiology Course, Marine Biological Laboratory, Woods Hole, MA 02543

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http://dx.doi.org/10.1091/mbc.E15-02-0113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591688PMC
October 2015

Organ-specific Neurodegeneration in Triple A syndrome-related Achalasia.

Am J Med 2015 Sep 23;128(9):e9-12. Epub 2015 May 23.

Department of Medicine II, Saarland University Medical Center, Homburg, Germany.

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http://dx.doi.org/10.1016/j.amjmed.2015.04.025DOI Listing
September 2015

Role of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesis.

PLoS One 2015 13;10(4):e0124582. Epub 2015 Apr 13.

Klinik und Poliklinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124582PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395102PMC
March 2016

Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient.

PLoS One 2015 16;10(3):e0119030. Epub 2015 Mar 16.

Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany; Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119030PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361563PMC
January 2016

Two novel nebulin variants in an adult patient with congenital nemaline myopathy.

Neuromuscul Disord 2015 May 3;25(5):392-6. Epub 2015 Feb 3.

Neurologische Klinik, Heimer-Institut am Bergmannsheil, Ruhr-Universität Bochum, Bochum, Germany.

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http://dx.doi.org/10.1016/j.nmd.2015.01.013DOI Listing
May 2015

Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation.

Orphanet J Rare Dis 2013 Nov 14;8:178. Epub 2013 Nov 14.

Institute of Cell Biology and Neurobiology, Charité University Medicine Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, Berlin 13353, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225825PMC
November 2013

Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Eur J Pediatr 2012 Oct 28;171(10):1453-9. Epub 2012 Apr 28.

Division of Endocrinology, Department of Pediatrics, University Hospital Centre Zagreb, Kišpatićeva 12, 10000 Zagreb, Croatia.

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http://dx.doi.org/10.1007/s00431-012-1745-1DOI Listing
October 2012

Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

Neuromuscul Disord 2011 Aug 2;21(8):556-62. Epub 2011 Jul 2.

The Folkhälsan Institute of Genetics and The Department of Medical Genetics, University of Helsinki, Haartman Institute, Finland.

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http://dx.doi.org/10.1016/j.nmd.2011.05.012DOI Listing
August 2011

New ophthalmic features in a family with triple A syndrome.

Int Ophthalmol 2011 Jun 28;31(3):239-43. Epub 2011 May 28.

Department of Ophthalmology, University of Athens, 144 Kountouriotou str., Piraeus, Greece.

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http://dx.doi.org/10.1007/s10792-011-9450-zDOI Listing
June 2011

Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Eur J Pediatr 2011 Mar 8;170(3):393-6. Epub 2010 Oct 8.

Division of Endocrinology, Department of Pediatrics, University Hospital Zagreb, Kišpatićeva 12, 10 000 Zagreb, Croatia.

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http://dx.doi.org/10.1007/s00431-010-1314-4DOI Listing
March 2011

Intracellular ROS level is increased in fibroblasts of triple A syndrome patients.

J Mol Med (Berl) 2010 Dec 13;88(12):1233-42. Epub 2010 Aug 13.

Children's Hospital, Technical University Dresden, Fetscherstr. 74, 01307, Dresden, Germany.

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http://dx.doi.org/10.1007/s00109-010-0661-yDOI Listing
December 2010

Triple A syndrome: 32 years experience of a single centre (1977-2008).

Eur J Pediatr 2010 Nov 25;169(11):1323-8. Epub 2010 May 25.

Mother and Child Healthcare Institute of Serbia Dr Vukan Cupic, Radoja Dakica 8, Belgrade, Serbia.

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http://dx.doi.org/10.1007/s00431-010-1222-7DOI Listing
November 2010

Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

J Neurol Sci 2010 Apr 8;291(1-2):79-85. Epub 2010 Feb 8.

Division of Neuropediatrics and Muscle Disorders, University Children's Hospital Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jns.2009.12.008DOI Listing
April 2010

Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Mol Endocrinol 2009 Dec 23;23(12):2086-94. Epub 2009 Oct 23.

Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, United Kingdom.

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http://dx.doi.org/10.1210/me.2009-0056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5419132PMC
December 2009

The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope.

Biochem Biophys Res Commun 2009 Dec 24;390(2):205-10. Epub 2009 Sep 24.

Children's Hospital, Technical University Dresden, D-01307 Dresden, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2009.09.080DOI Listing
December 2009

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

J Clin Endocrinol Metab 2009 Oct 22;94(10):3865-71. Epub 2009 Sep 22.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, London EC1M 6BQ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2009-0467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860769PMC
October 2009

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Hum Mutat 2009 Sep;30(9):E831-44

Departments of Clinical Sciences and Neurology Karolinska Institutet Danderyds Hospital, Division of Rehabilitation Medicine, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.21063DOI Listing
September 2009

Triple A syndrome: two novel mutations in the AAAS gene.

BMJ Case Rep 2009 7;2009. Epub 2009 Apr 7.

Lenval Foundation-Children's Hospital, Paediatric Department, 57 Avenue de la Californie, Nice, 06200, France.

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.09.2008.0984
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http://dx.doi.org/10.1136/bcr.09.2008.0984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3027378PMC
November 2011

Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

Eur J Hum Genet 2008 Dec 16;16(12):1499-506. Epub 2008 Jul 16.

Children's Hospital, Technical University Dresden, Dresden, Germany.

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http://dx.doi.org/10.1038/ejhg.2008.132DOI Listing
December 2008

Triple A syndrome mimicking ALS.

Amyotroph Lateral Scler 2008 Oct;9(5):315-7

Department of Neurology, Martin-Luther-University, Halle, Saale, Germany.

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http://dx.doi.org/10.1080/17482960802259016DOI Listing
October 2008

Clinical and molecular genetic findings in a 6-year-old Bosnian boy with triple A syndrome.

Eur J Pediatr 2009 Mar 13;168(3):317-20. Epub 2008 Jun 13.

Department of Pediatrics, University Clinical Center, Trnovac bb, 75000, Tuzla, Bosnia and Herzegovina.

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http://dx.doi.org/10.1007/s00431-008-0758-2DOI Listing
March 2009

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Horm Res 2008 17;69(6):363-8. Epub 2008 Mar 17.

Institute of Physiotherapy, University of Rzeszów, Poland.

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http://dx.doi.org/10.1159/000117393DOI Listing
July 2008

Progressive muscle atrophy with hypokalemic periodic paralysis and calcium channel mutation.

Muscle Nerve 2008 Jan;37(1):120-4

Department of Neurology, Charité University Hospital, Berlin, Germany.

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http://dx.doi.org/10.1002/mus.20825DOI Listing
January 2008

Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes.

Clin Endocrinol (Oxf) 2007 Aug 27;67(2):168-74. Epub 2007 Apr 27.

Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W. Medical Center Drive, Ann Arbor, MI 48109, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2007.02855.xDOI Listing
August 2007

The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.

Hum Mol Genet 2007 Jun 5;16(11):1351-8. Epub 2007 Apr 5.

Department of Cell Biology, University of Potsdam, 14476 Potsdam-Golm, Germany.

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http://dx.doi.org/10.1093/hmg/ddm085DOI Listing
June 2007

Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalities.

Muscle Nerve 2007 Mar;35(3):396-401

Department of Neuropediatrics, Charité University Medical Center, Augustenburger Platz 1, D-13353 Berlin, Germany.

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http://dx.doi.org/10.1002/mus.20705DOI Listing
March 2007

Mutations of the AAAS gene in an Indian family with Allgrove's syndrome.

World J Gastroenterol 2006 Aug;12(29):4764-6

Department of Gastrointestinal Sciences, Christian Medical College, Ida Scudder Road, Vellore 632004, India.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087849PMC
http://dx.doi.org/10.3748/wjg.v12.i29.4764DOI Listing
August 2006

A novel AAAS gene mutation (p.R194X) in a patient with triple A syndrome.

Horm Res 2006 15;65(4):171-6. Epub 2006 Mar 15.

Department of Internal Medicine, Division of Endocrinology, Clinical Hospital Center Zagreb and Zagreb University School of Medicine, Zagreb, Croatia.

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http://dx.doi.org/10.1159/000092003DOI Listing
June 2006

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.

Trends Endocrinol Metab 2005 Dec 3;16(10):451-7. Epub 2005 Nov 3.

Department of Endocrinology, Barts and the London, Queen Mary, University of London, West Smithfield, London EC1M 6BQ, UK.

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http://dx.doi.org/10.1016/j.tem.2005.10.006DOI Listing
December 2005

Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy.

Eur J Pediatr 2006 Jan 6;165(1):62-3. Epub 2005 Sep 6.

Department of Paediatric Neurology, Children's Hospital, Technical University Dresden, Fetscherstrasse 74, 01307, Dresden, Germany.

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http://link.springer.com/10.1007/s00431-005-1752-6
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http://dx.doi.org/10.1007/s00431-005-1752-6DOI Listing
January 2006

The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex.

Endocr Res 2004 Nov;30(4):891-9

Children's Hospital, Technical University, Dresden, Germany.

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http://dx.doi.org/10.1081/erc-200044138DOI Listing
November 2004

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Nat Genet 2005 Feb 16;37(2):166-70. Epub 2005 Jan 16.

Department of Endocrinology, William Harvey Research Institute, Barts & the London, Queen Mary, University of London, West Smithfield, London EC1A 7BE, UK.

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http://dx.doi.org/10.1038/ng1501DOI Listing
February 2005

Association of chronic symptomatic neutropenia with the triple A syndrome.

J Pediatr Hematol Oncol 2005 Jan;27(1):53-5

Pediatric Department A, Ha'Emek Medical Center, Afula, Israel.

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http://dx.doi.org/10.1097/01.mph.0000151802.34101.adDOI Listing
January 2005

Female adolescent smoking: a Delphi study on best prevention practices.

J Drug Educ 2004 ;34(3):295-311

Virginia Polytechnic Institute and State University, Blacksburg, VA 24061-0416, USA.

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http://dx.doi.org/10.2190/M8C4-HF1G-153K-TM6EDOI Listing
January 2005

The triple "a" syndrome confirmed by molecular analysis: a case report of 7-year-old boy.

J Pediatr Gastroenterol Nutr 2005 Jan;40(1):87-9

Department of Paediatrics, Gastroenterology and Nutrition, Medical University, Wroclaw, Poland.

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http://dx.doi.org/10.1097/00005176-200501000-00016DOI Listing
January 2005

Factors associated with former smokers among female adolescents in rural Virginia.

Addict Behav 2005 Jan;30(1):167-73

Department of Human Development, Virginia Tech, Northern Virginia Center, 7054 Haycock Road, Room 202G, Falls Church, VA 22043, USA.

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http://dx.doi.org/10.1016/j.addbeh.2004.04.004DOI Listing
January 2005

A newly identified chromosomal microdeletion of the rapsyn gene causes a congenital myasthenic syndrome.

Neuromuscul Disord 2004 Nov;14(11):744-9

Department of Neurology and Gene Center, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1016/j.nmd.2004.06.010DOI Listing
November 2004

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant.

Pediatr Nephrol 2004 Jun 9;19(6):602-8. Epub 2004 Mar 9.

Department of Pediatrics, University Hospital, Dresden University of Technology, Fetscherstrasse 74, 01307 Dresden, Germany.

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http://link.springer.com/10.1007/s00467-004-1442-z
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http://dx.doi.org/10.1007/s00467-004-1442-zDOI Listing
June 2004

Variable reduction of caveolin-3 in patients with LGMD2B/MM.

J Neurol 2003 Dec;250(12):1431-8

Gene Center, Friedrich-Baur-Institute & Dept. of Neurology, Ludwig Maximilians University of Munich, Munich, Germany.

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http://dx.doi.org/10.1007/s00415-003-0234-xDOI Listing
December 2003

Three children with triple A syndrome due to a mutation (R478X) in the AAAS gene.

Horm Res 2004 27;61(1):3-6. Epub 2003 Nov 27.

Division of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.

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http://dx.doi.org/10.1159/000075190DOI Listing
December 2004

Zimbabwean adolescents' condom use: what makes a difference? Implications for intervention.

J Adolesc Health 2003 Sep;33(3):165-71

Division of Family Studies and Human Development, The University of Arizona, Tucson, Arizona 85721, USA.

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http://dx.doi.org/10.1016/s1054-139x(02)00565-7DOI Listing
September 2003

Examining the relationship between adolescent sexual risk-taking and perceptions of monitoring, communication, and parenting styles.

J Adolesc Health 2003 Aug;33(2):71-8

Department of Human Development, Virginia Tech, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1016/s1054-139x(03)00141-1DOI Listing
August 2003

Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma.

Am J Surg Pathol 2003 Jul;27(7):1013-9

Department of Pathology, University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/00000478-200307000-00019DOI Listing
July 2003

Genetic separation of the human lacritin gene ("LACRT") and triple A (Allgrove) syndrome on 12q13.

Adv Exp Med Biol 2002 ;506(Pt A):167-74

Department of Cell Biology, University of Virginia, Charlottesville, Virginia, USA.

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http://dx.doi.org/10.1007/978-1-4615-0717-8_22DOI Listing
May 2003

Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase.

Neuromuscul Disord 2003 Mar;13(3):245-51

Department of Neurology, and Genzentrum, Ludwig-Maximilians-Universität München, Feodor-Lynen-Strasse 25, 81377 Munich, Germany.

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http://dx.doi.org/10.1016/s0960-8966(02)00273-0DOI Listing
March 2003

Chromosomal fragility in patients with triple A syndrome.

Am J Med Genet A 2003 Feb;117A(1):30-6

Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1002/ajmg.a.10846DOI Listing
February 2003