Dorothy K Grange

Dorothy K Grange

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Dorothy K Grange

Publications by authors named "Dorothy K Grange"

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Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.

Am J Med Genet A 2019 Aug 7;179(8):1585-1590. Epub 2019 Jun 7.

Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.61200DOI Listing
August 2019

White and gray matter brain development in children and young adults with phenylketonuria.

Neuroimage Clin 2019 2;23:101916. Epub 2019 Jul 2.

Department of Psychological & Brain Sciences, Campus Box 1125, Washington University, St. Louis, MO, United States; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.

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http://dx.doi.org/10.1016/j.nicl.2019.101916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627563PMC
July 2019

Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype.

Hum Genet 2019 Jun 8;138(6):625-634. Epub 2019 Apr 8.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.

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http://dx.doi.org/10.1007/s00439-019-02011-xDOI Listing
June 2019

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

Am J Hum Genet 2019 Feb 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

Dichotomous roles of in the establishment of atrioventricular conduction pathways in the human heart.

HeartRhythm Case Rep 2019 Feb 20;5(2):109-111. Epub 2018 Nov 20.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1016/j.hrcr.2018.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379565PMC
February 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Developmental Trajectories of Executive and Verbal Processes in Children with Phenylketonuria.

Dev Neuropsychol 2018 12;43(3):207-218. Epub 2018 Feb 12.

a Department of Psychological & Brain Sciences , Washington University , St. Louis , Missouri , United States of America.

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http://dx.doi.org/10.1080/87565641.2018.1438439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902806PMC
June 2018

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

J Pediatr 2017 11 17;190:130-135. Epub 2017 Jul 17.

Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

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http://dx.doi.org/10.1016/j.jpeds.2017.06.048DOI Listing
November 2017

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genet Med 2017 09 2;19(9):1040-1048. Epub 2017 Mar 2.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2016.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5581723PMC
September 2017

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria.

Mol Genet Metab Rep 2017 Sep 23;12:8-13. Epub 2017 Feb 23.

Department of Psychological and Brain Sciences, Campus Box 1125, Washington University, St. Louis, MO 63130, USA; Department of Pediatrics, Campus Box 8116, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2017.01.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323508PMC
September 2017

Automatic recognition of the XLHED phenotype from facial images.

Am J Med Genet A 2017 Sep 10;173(9):2408-2414. Epub 2017 Jul 10.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.38343DOI Listing
September 2017

Clinical utility gene card for: Cantú syndrome.

Eur J Hum Genet 2017 04 4;25(4). Epub 2017 Jan 4.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1038/ejhg.2016.185DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386410PMC
April 2017

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Am J Med Genet A 2016 Nov 18;170(11):3048-3050. Epub 2016 Jul 18.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.37849DOI Listing
November 2016

Neurologic and neuroimaging manifestations of Cantú syndrome: A case series.

Neurology 2016 07 17;87(3):270-6. Epub 2016 Jun 17.

From George Washington University (C.R.L.G.), Washington, DC; and Washington University School of Medicine (S.P., D.K.G., G.K.S., C.G.N., J.-M.L., K.D.V.), St. Louis, MO.

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http://dx.doi.org/10.1212/WNL.0000000000002861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955281PMC
July 2016

Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive Abilities in Children with Phenylketonuria.

JIMD Rep 2017 22;33:41-47. Epub 2016 Jul 22.

Department of Psychological and Brain Sciences, Washington University, Campus Box 1125, St. Louis, MO, 63130, USA.

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http://dx.doi.org/10.1007/8904_2016_579DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413446PMC
July 2016

Relationship between age and white matter integrity in children with phenylketonuria.

Mol Genet Metab Rep 2016 Jun 8;7:45-9. Epub 2016 Apr 8.

Department of Psychological & Brain Sciences, One Brookings Drive, Campus Box 1125, Washington University, St. Louis, MO 63130, USA; Department of Pediatrics, Campus Box 8116, Washington University, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832081PMC
June 2016

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Am J Hum Genet 2016 05 28;98(5):909-918. Epub 2016 Apr 28.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.

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http://dx.doi.org/10.1016/j.ajhg.2016.03.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863664PMC
May 2016

Multigenerational autosomal dominant inheritance of 5p chromosomal deletions.

Am J Med Genet A 2016 Mar 24;170(3):583-93. Epub 2015 Nov 24.

Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37445DOI Listing
March 2016

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

Am J Med Genet C Semin Med Genet 2016 Mar 9;172C(1):44-51. Epub 2016 Feb 9.

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http://dx.doi.org/10.1002/ajmg.c.31472DOI Listing
March 2016

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications.

Am J Med Genet A 2015 Dec 30;167A(12):2893-901. Epub 2015 Sep 30.

Division of Clinical Genetics, University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska.

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http://dx.doi.org/10.1002/ajmg.a.37273DOI Listing
December 2015

Electrophysiologic consequences of KATP gain of function in the heart: Conduction abnormalities in Cantu syndrome.

Heart Rhythm 2015 Nov 30;12(11):2316-24. Epub 2015 Jun 30.

Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis, Missouri. Electronic address:

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http://dx.doi.org/10.1016/j.hrthm.2015.06.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624040PMC
November 2015

Fabry disease in infancy and early childhood: a systematic literature review.

Genet Med 2015 May 18;17(5):323-30. Epub 2014 Sep 18.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

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http://dx.doi.org/10.1038/gim.2014.120DOI Listing
May 2015

Brainstem disconnection: two additional patients and expansion of the phenotype.

Neuropediatrics 2015 Apr 11;46(2):139-44. Epub 2015 Feb 11.

Department of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1544127DOI Listing
April 2015

Overnight pulse oximetry for evaluation of sleep apnea among children with trisomy 21.

J Clin Sleep Med 2014 Dec 15;10(12):1309-15. Epub 2014 Dec 15.

Department of Pediatrics, Washington University School of Medicine, St. Louis, MO.

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http://dx.doi.org/10.5664/jcsm.4286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237524PMC
December 2014

Fatal human herpesvirus 6-associated encephalitis in two boys with underlying POLG mitochondrial disorders.

Pediatr Neurol 2014 Sep 13;51(3):448-52. Epub 2014 Apr 13.

Division of Pediatric Infectious Diseases, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan. Electronic address:

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http://www.nil.wustl.edu/labs/petersen/Publications_files/1-
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http://linkinghub.elsevier.com/retrieve/pii/S088789941400212
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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.006DOI Listing
September 2014

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

Mol Genet Genomic Med 2014 Sep 20;2(5):422-9. Epub 2014 May 20.

Program in Craniofacial and Mesenchymal Biology, University of California San Francisco San Francisco, CA ; Center for Craniofacial Anomalies, Department of Orofacial Sciences, University of California San Francisco San Francisco, CA ; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco San Francisco, CA.

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http://dx.doi.org/10.1002/mgg3.84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190877PMC
September 2014

Cantú syndrome resulting from activating mutation in the KCNJ8 gene.

Hum Mutat 2014 Jul 6;35(7):809-13. Epub 2014 May 6.

Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.22555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4277879PMC
July 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Am J Med Genet A 2014 May 23;164A(5):1118-26. Epub 2014 Jan 23.

Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.36401DOI Listing
May 2014

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

Mol Genet Metab 2014 May 12;112(1):9-16. Epub 2014 Mar 12.

BioMarin Pharmaceutical Inc., 105 Digital Drive, Novato, CA 94949, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.02.016DOI Listing
May 2014

Variability in phenylalanine control predicts IQ and executive abilities in children with phenylketonuria.

Mol Genet Metab 2014 Apr 31;111(4):445-51. Epub 2014 Jan 31.

Department of Psychology, Campus Box 1125, Washington University, St. Louis, MO 63130, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192140003
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http://dx.doi.org/10.1016/j.ymgme.2014.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4144445PMC
April 2014

Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.

Am J Med Genet A 2013 Dec 2;161A(12):2953-63. Epub 2013 Oct 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas; Department of Pediatrics-Hematology-Oncology, Baylor College of Medicine and Texas Children's Cancer Center, Houston, Texas.

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http://dx.doi.org/10.1002/ajmg.a.35886DOI Listing
December 2013

White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria.

Mol Genet Metab 2013 Nov 19;110(3):213-7. Epub 2013 Jul 19.

Department of Psychology, Campus Box 1125, Washington University, St. Louis, MO 63130, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832288PMC
November 2013

Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy.

Dev Neuropsychol 2013 ;38(3):139-52

Department of Psychology, Washington University, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1080/87565641.2012.718816DOI Listing
September 2013

White matter integrity and executive abilities in individuals with phenylketonuria.

Mol Genet Metab 2013 Jun 6;109(2):125-31. Epub 2013 Apr 6.

Department of Psychiatry, Campus Box 8134, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3678378PMC
June 2013

KATP channels and cardiovascular disease: suddenly a syndrome.

Circ Res 2013 Mar;112(7):1059-72

Center for the Investigation of Membrane Excitability Diseases and Department of Cell Biology and Physiology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1161/CIRCRESAHA.112.300514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3660033PMC
March 2013

Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst.

Eur J Med Genet 2012 Aug-Sep;55(8-9):485-9. Epub 2012 Apr 22.

Department of Pathology and Immunology, Washington University School of Medicine, Campus Box 8118, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.04.003DOI Listing
November 2012

Processing speed and executive abilities in children with phenylketonuria.

Neuropsychology 2012 Nov 6;26(6):735-43. Epub 2012 Aug 6.

Department of Psychology, Campus Box 1125, Washington University, St. Louis, MO 63130, USA.

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http://doi.apa.org/getdoi.cfm?doi=10.1037/a0029419
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http://dx.doi.org/10.1037/a0029419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526340PMC
November 2012

Tetrahydrobiopterin therapy for phenylketonuria in infants and young children.

J Pediatr 2011 Mar;158(3):410-5

Department of Pediatrics, Northwestern University Feinberg School of Medicine and PKU Clinic, Children's Memorial Hospital, Chicago, IL 60614-3363, USA.

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http://dx.doi.org/10.1016/j.jpeds.2010.08.016DOI Listing
March 2011

Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield.

J Mol Diagn 2010 Sep 8;12(5):576-88. Epub 2010 Jul 8.

Department of Pathology, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.2353/jmoldx.2010.100005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928421PMC
September 2010

Pilocytic astrocytoma in a child with Noonan syndrome.

Pediatr Blood Cancer 2009 Dec;53(6):1147-9

Department of Pediatrics, Washington University School of Medicine, Saint Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/pbc.22193DOI Listing
December 2009

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

J Invest Dermatol 2009 Mar 18;129(3):553-63. Epub 2008 Sep 18.

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1038/jid.2008.271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2900916PMC
March 2009

Response monitoring in children with phenylketonuria.

Neuropsychology 2009 Jan;23(1):130-4

Department of Psychology, Washington University, St.Louis, MO 63130, USA.

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http://dx.doi.org/10.1037/a0013488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076958PMC
January 2009

Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.

Am J Med Genet A 2008 Oct;146A(20):2589-97

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.32503DOI Listing
October 2008

Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.

Clin Orthop Relat Res 2008 Jun 6;466(6):1503-9. Epub 2008 Mar 6.

Department of Orthopaedic Surgery, Washington University School of Medicine, One Children's Place, Suite 4S20, St Louis, MO 63110, USA.

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http://link.springer.com/10.1007/s11999-008-0196-5
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http://dx.doi.org/10.1007/s11999-008-0196-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2384041PMC
June 2008

Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.

Hum Mutat 2007 Sep;28(9):882-9

Department of Internal Medicine, Renal Division, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/humu.20536DOI Listing
September 2007

Inhibitory control in children with phenylketonuria.

Dev Neuropsychol 2006 ;30(3):845-64

Department of Psychological Sciences, University of Missouri-Columbia, Department of Psychology, Washington University, St. Louis, MO 65211, USA.

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http://web.missouri.edu/~christse/pubs/PKUinpress.pdf
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http://www.tandfonline.com/doi/abs/10.1207/s15326942dn3003_5
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http://dx.doi.org/10.1207/s15326942dn3003_5DOI Listing
February 2007

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

Am J Med Genet A 2006 Aug;140(15):1673-80

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.31348DOI Listing
August 2006

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Am J Med Genet A 2006 Jun;140(12):1257-63

Institut für Humangenetik, Westfälische Wilhelms-Universität, Münster, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31265DOI Listing
June 2006

Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.

Am J Med Genet A 2005 Dec;139A(2):151-5

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1002/ajmg.a.31001DOI Listing
December 2005

Trisomy 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a paternal inversion (20)(p13q13.1): clinical report and review of the trisomy 20q phenotype.

Am J Med Genet A 2005 Sep;137A(3):308-12

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1002/ajmg.a.30877DOI Listing
September 2005

Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.

J Perinatol 2005 Jul;25(7):491-4

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1038/sj.jp.7211335DOI Listing
July 2005

LIT1 and H19 methylation defects in isolated hemihyperplasia.

Am J Med Genet A 2005 Apr;134A(2):129-31

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30578
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http://dx.doi.org/10.1002/ajmg.a.30578DOI Listing
April 2005

Case report: lethal multiple pterygium syndrome.

Pediatr Pathol Mol Med 2003 Nov-Dec;22(6):461-70

Saint Louis University School of Medicine, Department of Pathology, SSM Cardinal Glennon Children's Hospital, St Louis, Missouri 63104-1095, USA.

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June 2004

Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.

Pediatr Crit Care Med 2004 May;5(3):278-81

Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, USA.

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May 2004

Intracranial infantile myofibromatosis with intraparenchymal involvement.

Pediatr Neurosurg 2002 Apr;36(4):214-7

Department of Neurological Surgery, Washington University School of Medicine and St. Louis Children's Hospital, One Children's Place, Suite 4S20, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1159/000056059DOI Listing
April 2002