Dorothy K. Grange: шукати на сайті Z-Library

Cooper, Paige E., Reutter, Heiko, Woelfle, Joachim, Engels, Hartmut, Grange, Dorothy K., van Haaften, Gijs, van Bon, Bregje W., Hoischen, Alexander, Nichols, Colin G.

Рік:

2014

Мова:

english

Файл:

PDF, 885 KB

english, 2014

Cantú Syndrome Resulting from Activating Mutation in the KCNJ8 Gene

Журнал:

Human Mutation

Рік:

2014

Мова:

english

Файл:

PDF, 439 KB

english, 2014

Cantu syndrome–associated SUR2 (ABCC9) mutations in distinct structural domains result in K ATP channel gain-of-function by differential mechanisms

McClenaghan, Conor, Hanson, Alex, Sala-Rabanal, Monica, Roessler, Helen I., Josifova, Dragana, Grange, Dorothy K., van Haaften, Gijs, Nichols, Colin G.

Журнал:

Journal of Biological Chemistry

Рік:

2018

Мова:

english

Файл:

PDF, 2.81 MB

english, 2018

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

Ma, Alan, Gurnasinghani, Sunita, Kirk, Edwin P., McClenaghan, Conor, Singh, Gautam K., Grange, Dorothy K., Pandit, Chetan, Zhou, Ying, Roscioli, Tony, Elakis, George, Buckley, Michael, Mehta, Bhavesh,

Журнал:

Grange, Dorothy K., Balfour, Ian C., Chen, Su-chiung, Wood, Ellen G.

Рік:

2019

Мова:

english

Файл:

PDF, 1.17 MB

english, 2019

Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities

Журнал:

Batanian, Jacqueline R., Huang, Yufeng, Gottesman, Gary S., Grange, Dorothy K., Blasingame, Alfreda V.

Рік:

1998

Мова:

english

Файл:

PDF, 626 KB

english, 1998

Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting

Журнал:

Grange, Dorothy K., Kratz, Lisa E., Braverman, Nancy E., Kelley, Richard I.

Рік:

2000

Мова:

english

Файл:

PDF, 3.53 MB

english, 2000

CHILD syndrome caused by deficiency of 3?-hydroxysteroid-?8, ?7-isomerase

Журнал:

Рік:

2000

Мова:

english

Файл:

PDF, 595 KB

english, 2000

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

Verloes, Alain, Lesenfants, Sylviane, Barr, Mason, Grange, Dorothy K., Journel, Hubert, Lombet, Jacques, Mortier, Gert, Roeder, Elisabeth

Журнал:

Dorothy K. Grange, Richard I. Kelley

Рік:

2000

Мова:

english

Файл:

PDF, 1.71 MB

english, 2000

Reply to the letter to the editor by Happle et al.–“Behold the CHILD, it's only one: CHILD syndrome is not caused by deficiency of 3β-hydroxysteroid-Δ8,Δ7-isomerase”

Журнал:

Dorothy K. Grange, Mary Beth Lewis, Joan C. Marini

Рік:

2000

Мова:

english

Файл:

PDF, 56 KB

english, 2000

Analysis Of cultured chorionic villi in a case of osteogenesis imperfecta type II: Implications for prenatal diagnosis

Журнал:

Rick A. Martin, Dorothy K. Grange, Babara Zehnbauer, Michael R. DeBaun

Рік:

1990

Мова:

english

Файл:

PDF, 755 KB

english, 1990

LIT1 and H19 methylation defects in isolated hemihyperplasia

Журнал:

Dorothy K. Grange, Jaime Garcia-Heras, Ramzi A. Kilani, Stephen Lamp

Рік:

2005

Мова:

english

Файл:

PDF, 48 KB

english, 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

Журнал:

Dorothy K. Grange, Stephen G. Kaler, Gary M. Albers, James A. Petterchak, Connie M. Thorpe, Daphne E. deMello

Рік:

2005

Мова:

english

Файл:

PDF, 190 KB

english, 2005

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

Журнал:

Axel Bohring, Grétel G. Oudesluijs, Dorothy K. Grange, Giuseppe Zampino, Patrick Thierry

Рік:

2005

Мова:

english

Файл:

PDF, 293 KB

english, 2005

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

Журнал:

Dorothy K. Grange, Steven M. Lorch, Patricia L. Cole, Gautam K. Singh

Рік:

2006

Мова:

english

Файл:

PDF, 231 KB

english, 2006

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

Журнал:

Dorothy K. Grange, Carol L. Clericuzio, Susan J. Bayliss, David R. Berk, Richard L. Heideman, Julie K. Higginson, Stephanie Julian, Anne Lind

Рік:

2006

Мова:

english

Файл:

PDF, 300 KB

english, 2006

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

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 222 KB

english, 2008

De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction

Dianna M. Milewicz, John R. Østergaard, Leena M. Ala-Kokko, Nadia Khan, Dorothy K. Grange, Roberto Mendoza-Londono, Timothy J. Bradley, Ann Haskins Olney, Lesley Adès, Joseph F. Maher, Dongchuan Guo,

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 319 KB

english, 2010

Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay

Jun Gu, Sandesh C. Sreenath Nagamani, Vicki L. Hopwood, Beatriz Sanchez, Yasaman Saeidinejad, Zhishuo Ou, Sandra Peacock, Dorothy K. Grange, Pawel Stankiewicz, Sau Wai Cheung

Журнал:

Laura G. Schuettpelz, Sharon McDonald, Kristina Whitesell, David M. Desruisseau, Dorothy K. Grange, Christina A. Gurnett, David B. Wilson

Рік:

2011

Мова:

english

Файл:

PDF, 299 KB

english, 2011

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

Casey L. Moulson, Loren G. Fong, Jennifer M. Gardner, Emily A. Farber, Gloriosa Go, Annalisa Passariello, Dorothy K. Grange, Stephen G. Young, Jeffrey H. Miner

Журнал:

Human Mutation

Рік:

2007

Мова:

english

Файл:

PDF, 351 KB

english, 2007

Pilocytic astrocytoma in a child with Noonan syndrome

Журнал:

Pediatric Blood & Cancer

Рік:

2009

Мова:

english

Файл:

PDF, 129 KB

english, 2009

Case Report

Matthew B. Dobbs, Stephanie Boehm, Dorothy K. Grange, Christina A. Gurnett

Журнал:

Clinical Orthopaedics and Related Research®

Рік:

2008

Мова:

english

Файл:

PDF, 307 KB

english, 2008

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

Judith Livingston, Bradford L. Therrell, Marie Y. Mann, Carolyn Stady Anderson, Katherine Christensen, Jerome L. Gorski, Dorothy K. Grange, Dawn Peck, Margy Roberston, Sharmini Rogers, Maura Taylor, C

Журнал:

Journal of Community Genetics

Рік:

2011

Мова:

english

Файл:

PDF, 201 KB

english, 2011

Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes

Li, Qiaoli, Grange, Dorothy K, Armstrong, Nicole L, Whelan, Alison J, Hurley, Maria Y, Rishavy, Mark A, Hallgren, Kevin W, Berkner, Kathleen L, Schurgers, Leon J, Jiang, Qiujie

Журнал:

The Journal of Investigative Dermatology

Рік:

2008

Мова:

english

Файл:

PDF, 12.97 MB

english, 2008

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

Loren, David J, Campos, Yvan, d'Azzo, Alessandra, Wyble, Lance, Grange, Dorothy K, Gilbert-Barness, Enid, White, Frances V, Hamvas, Aaron

Журнал:

Journal of Perinatology

Рік:

2005

Мова:

english

Файл:

PDF, 138 KB

english, 2005

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

Friedrich K. Trefz, Barbara K. Burton, Nicola Longo, Mercedes Martinez-Pardo Casanova, Daniel J. Gruskin, Alex Dorenbaum, Emil D. Kakkis, Eric A. Crombez, Dorothy K. Grange, Paul Harmatz, Mark H. Lips

Журнал:

Рік:

2009

Мова:

english

Файл:

PDF, 505 KB

english, 2009

Tetrahydrobiopterin Therapy for Phenylketonuria in Infants and Young Children

Barbara K. Burton, Darius J. Adams, Dorothy K. Grange, John I. Malone, Elaina Jurecki, Heather Bausell, Kayt D. Marra, Laurie Sprietsma, Kathleen T. Swan

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 386 KB

english, 2011

Reply

Barbara K. Burton, Darius J. Adams, Dorothy K. Grange, John I. Malone, Elaina Jurecki, Heather Bausell, Kayt D. Marra, Laurie Sprietsma, Kathleen T. Swan

Журнал:

Linda C. Walker, Joan C. Marini, Dorothy K. Grange, Jane Filie, Heather N. Yeowell

Рік:

2011

Мова:

english

Файл:

PDF, 134 KB

english, 2011

A Patient with Ehlers-Danlos Syndrome Type VI Is Homozygous for a Premature Termination Codon in Exon 14 of the Lysyl Hydroxylase 1 Gene

Журнал:

Рік:

1999

Мова:

english

Файл:

PDF, 139 KB

english, 1999

GGCX and ABCC6 gene mutations in a family with PXE-like phenotype

Qiaoli Li, Dorothy K. Grange, Nicole L. Armstrong, M. Yadira Hurley, Mark Rishavy, Kevin Hallgren, Kathleen L. Berkner, Leon J. Schurgers, Qiujie Jiang, Jouni Uitto

Журнал:

Matrix Biology

Рік:

2008

Мова:

english

Файл:

PDF, 74 KB

english, 2008

Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: A DTI study of the corpus callosum

Desiree A. White, Lisa Tabor Connor, Binyam Nardos, Joshua S. Shimony, Rebecca Archer, Abraham Z. Snyder, Asif Moinuddin, Dorothy K. Grange, Robert D. Steiner, Robert C. McKinstry

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 232 KB

english, 2010

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study

Barbara K. Burton, Maria Nowacka, Julia B. Hennermann, Mark Lipson, Dorothy K. Grange, Anupam Chakrapani, Friedrich Trefz, Alex Dorenbaum, Michael Imperiale, Sun Sook Kim, Paul M. Fernhoff

Журнал:

Рік:

2011

Мова:

english

Файл:

PDF, 290 KB

english, 2011

Bone marrow transplantation for the treatment of α-mannosidosis

Donna A. Wall, Dorothy K. Grange, Peggy Goulding, Michael Daines, Atchawee Luisiri, Suresh Kotagal

Журнал:

The American Journal of Human Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 243 KB

english, 1998

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Ernst Reichenberger, Valdenize Tiziani, Shoji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica Gardner, Herman Hamersma, Sean

Журнал:

Рік:

2001

Мова:

english

Файл:

PDF, 793 KB

english, 2001

Studies on the biosynthesis of dolichyl phosphate: Evidence for the in vitro formation of 2,3-dehydrodolichyl phosphate

Dorothy K. Grange, W. Lee Adair Jr.

Журнал:

Biochemical and Biophysical Research Communications

Рік:

1977

Мова:

english

Файл:

PDF, 365 KB

english, 1977

Distinct Clinical and Histopathological Presentations of Danon Cardiomyopathy in Young Women

Amir Toib, Dorothy K. Grange, Beth A. Kozel, Gregory A. Ewald, Frances V. White, Charles E. Canter

Журнал:

Journal of the American College of Cardiology

Рік:

2010

Мова:

english

Файл:

PDF, 491 KB

english, 2010

Characterization of Point Mutations in Type I Collagen by RNA/RNA Hybrid Analysis

JOAN C. MARINI, DOROTHY K. GRANGE, GARY S. GOTTESMAN, MARY BETH LEWIS

Журнал:

Annals of the New York Academy of Sciences

Рік:

1990

Мова:

english

Файл:

PDF, 299 KB

english, 1990

Emery and Rimoin's Principles and Practice of Medical Genetics || Ectodermal Dysplasias

Grange, Dorothy Katherine

Рік:

2013

Мова:

english

Файл:

PDF, 6.56 MB

english, 2013

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

Peddibhotla, Sirisha, Khalifa, Mohamed, Probst, Frank J., Stein, Jennifer, Harris, Leslie L., Kearney, Debra L., Vance, Gail H., Bull, Marilyn J., Grange, Dorothy K., Scharer, Gunter H., Kang, Sue-Hae

Журнал:

Lennerz, Jochen K., Timmerman, Robert J., Grange, Dorothy K., DeBaun, Michael R., Feinberg, Andrew P., Zehnbauer, Barbara A.

Рік:

2013

Мова:

english

Файл:

PDF, 1.21 MB

english, 2013

Addition of H19 ‘Loss of Methylation Testing’ for Beckwith-Wiedemann Syndrome (BWS) Increases the Diagnostic Yield

Журнал:

The Journal of Molecular Diagnostics

Рік:

2010

Мова:

english

Файл:

PDF, 697 KB

english, 2010

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelicUBE3Bmutations

Basel-Vanagaite, Lina, Yilmaz, Rüstem, Tang, Sha, Reuter, Miriam S., Rahner, Nils, Grange, Dorothy K., Mortenson, Megan, Koty, Patrick, Feenstra, Heather, Farwell Gonzalez, Kelly D., Sticht, Heinrich,

Журнал:

Human Genetics

Рік:

2014

Мова:

english

Файл:

PDF, 319 KB

english, 2014

Fatal Human Herpesvirus 6–Associated Encephalitis in Two Boys With Underlying POLG Mitochondrial Disorders

Al-Zubeidi, Duha, Thangarajh, Mathula, Pathak, Sheel, Cai, Chunyu, Schlaggar, Bradley L., Storch, Gregory A., Grange, Dorothy K., Watson, Michael E.

Журнал:

Pediatric Neurology

Рік:

2014

Мова:

english

Файл:

PDF, 304 KB

english, 2014

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Ea

Журнал:

The American Journal of Human Genetics

Рік:

2013

Мова:

english

Файл:

PDF, 294 KB

english, 2013

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

Longo, Nicola, Harding, Cary O, Burton, Barbara K, Grange, Dorothy K, Vockley, Jerry, Wasserstein, Melissa, Rice, Gregory M, Dorenbaum, Alejandro, Neuenburg, Jutta K, Musson, Donald G, Gu, Zhonghua, S

Журнал:

The Lancet

Рік:

2014

Мова:

english

Файл:

PDF, 314 KB

english, 2014

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

Hood, Anna, Grange, Dorothy K., Christ, Shawn E., Steiner, Robert, White, Desirée A.

Журнал:

Hucthagowder, Vishwanathan, Liu, Ta-Chiang, Paciorkowski, Alex R., Thio, Liu Lin, Keller, Martin S., Anderson, Christopher D., Herman, Thomas, Dehner, Louis P., Grange, Dorothy K., Kulkarni, Shashikan

Рік:

2014

Мова:

english

Файл:

PDF, 375 KB

english, 2014

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

Журнал:

European Journal of Medical Genetics

Рік:

2012

Мова:

english

Файл:

PDF, 667 KB

english, 2012

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

White, Desirée A., Antenor-Dorsey, Jo Ann V., Grange, Dorothy K., Hershey, Tamara, Rutlin, Jerrel, Shimony, Joshua S., McKinstry, Robert C., Christ, Shawn E.

Журнал:

Grange, Dorothy K., Hillman, Richard E., Burton, Barbara K., Yano, Shoji, Vockley, Jerry, Fong, Chin-To, Hunt, JoEllen, Mahoney, John J., Cohen-Pfeffer, Jessica L.

Рік:

2013

Мова:

english

Файл:

PDF, 330 KB

english, 2013

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

Журнал:

Antenor-Dorsey, Jo Ann V., Hershey, Tamara, Rutlin, Jerrel, Shimony, Joshua S., McKinstry, Robert C., Grange, Dorothy K., Christ, Shawn E., White, Desirée A.

Рік:

2014

Мова:

english

Файл:

PDF, 219 KB

english, 2014

White matter integrity and executive abilities in individuals with phenylketonuria

Журнал: