Works matching AU Hisama

Results: 73

Achievement Motivation and the Locus of Control of Children with Learning Disabilities and Behavior Disorders.

Published in:

Journal of Learning Disabilities, 1976, v. 9, n. 6, doi. 10.1177/002221947600900610

By:

Hisama, T.

Publication type:

Article

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men.

Published in:

Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.557341

By:

Deng, Xinxian;
Fang, He;
Pathak, Asha;
Zou, Angela M.;
Neufeld-Kaiser, Whitney;
Malouf, Emily A.;
Failor, Richard A.;
Hisama, Fuki M.;
Liu, Yajuan J.

Publication type:

Article

Getting to Count.

Published in:

Music Theory Spectrum, 2021, v. 43, n. 2, p. 349, doi. 10.1093/mts/mtaa033

By:

Hisama, Ellie M

Publication type:

Article

Understanding Charles Seeger, Pioneer in American Musicology (Book).

Published in:

2002

By:

Hisama, Ellie M.

Publication type:

Book Review

Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2025, v. 197, n. 1, p. 1, doi. 10.1002/ajmg.a.63847

By:

Boyd, Brenna M.;
Fang, He;
Allingham‐Hawkins, Diane;
Fischer, Gregory J.;
Peng, Siwu;
Puryear, Lauren;
Liu, Yajuan J.;
Hisama, Fuki M.

Publication type:

Article

Oxygen Scavenging and Oxygen Barrier Poly(1,2‐butadiene) Films Containing an Iron‐Complex Catalyst.

Published in:

Macromolecular Chemistry & Physics, 2019, v. 220, n. 19, p. N.PAG, doi. 10.1002/macp.201900294

By:

Wang, Yu;
Shoda, Motoharu;
Hisama, Ayako;
Oyaizu, Kenichi;
Nishide, Hiroyuki

Publication type:

Article

Congenital Intra-abdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4.

Published in:

Pediatric & Developmental Pathology, 2011, v. 14, n. 3, p. 224, doi. 10.2350/09-04-0638-CR.1

By:

YU, DAVID C.;
PATHAK, BHAVANA;
VARGAS, SARA O.;
JAVID, PATRICK J.;
HISAMA, FUKI M.;
WILSON, JAY M.;
LINDEN, BRADLEY C.

Publication type:

Article

Stimulation of growth ofPorphyromonas gingivalisby cell extracts fromTannerella forsythia.

Published in:

Journal of Periodontal Research, 2005, v. 40, n. 2, p. 105, doi. 10.1111/j.1600-0765.2005.00774.x

By:

Yoneda, Masahiro;
Yoshikane, Toru;
Motooka, Noriko;
Yamada, Kazuhiko;
Hisama, Kazuhiro;
Naito, Toru;
Okada, Ichizo;
Yoshinaga, Masaharu;
Hidaka, Keitaro;
Imaizumi, Koichi;
Maeda, Katsumasa;
Hirofuji, Takao

Publication type:

Article

Clinical utility gene card for: Werner Syndrome - Update 2014.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 6, p. 1, doi. 10.1038/ejhg.2014.171

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Clinical utility gene card for: Werner syndrome.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 5, p. 1, doi. 10.1038/ejhg.2011.265

By:

Hisama, Fuki M;
Kubisch, Christian;
Martin, George M;
Oshima, Junko

Publication type:

Article

Patterns of Japanese clinical nursing: a historical analysis.

Published in:

2001

By:

Hisama KK

Publication type:

Journal Article

Molecular dynamics of liquid–electrode interface by integrating Coulomb interaction into universal neural network potential.

Published in:

Journal of Computational Chemistry, 2024, v. 45, n. 32, p. 2805, doi. 10.1002/jcc.27487

By:

Hisama, Kaoru;
Valadez Huerta, Gerardo;
Koyama, Michihisa

Publication type:

Article

Na<sub>v</sub>1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons.

Published in:

Journal of Neuroscience, 2006, v. 26, n. 48, p. 12566, doi. 10.1523/JNEUROSCI.3424-06.2006

By:

Harty, T. Patrick;
Dib-Hajj, Sulayman D.;
Tyrrell, Lynda;
Blackman, Rachael;
Hisama, Fuki M.;
Rose, John B.;
Waxman, Stephen G.

Publication type:

Article

Dysfunction of the MDM2/p53 axis is linked to premature aging.

Published in:

2017

By:

Lessel, Davor;
Danyi Wu;
Trujillo, Carlos;
Ramezani, Thomas;
Lessel, Ivana;
Alwasiyah, Mohammad K.;
Saha, Bidisha;
Hisama, Fuki M.;
Rading, Katrin;
Goebel, Ingrid;
Schütz, Petra;
Speit, Günter;
Högel, Josef;
Thiele, Holger;
Nürnberg, Gudrun;
Nürnberg, Peter;
Hammerschmidt, Matthias;
Yan Zhu;
Tong, David R.;
Katz, Chen

Publication type:

journal article

Is it in your genes? (Book).

Published in:

2004

By:

Hisama, Fuki M.

Publication type:

Book Review

DJ Kuttin Kandi: Performing Feminism.

Published in:

American Music Review, 2014, v. 43, n. 2, p. 30

By:

Hisama, Ellie M.

Publication type:

Article

Feminist Scholarship as a Social Act: Remembering Adrienne Fried Block.

Published in:

American Music Review, 2009, v. 39, n. 1, p. 1

By:

Hisama, Ellie M.

Publication type:

Article

Towards an international theory of nursing.

Published in:

Nursing & Health Sciences, 1999, v. 1, n. 2, p. 77, doi. 10.1046/j.1442-2018.1999.00011.x

By:

Hisama, Kay K.

Publication type:

Article

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.

Published in:

2019

By:

Freed, Amanda S.;
Weiss, Michael D.;
Malouf, Emily A.;
Hisama, Fuki M.

Publication type:

journal article

A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

Published in:

Molecular Syndromology, 2010, v. 1, n. 3, p. 127, doi. 10.1159/000320166

By:

Saha, B.;
Lessel, D.;
Hisama, F.M.;
Leistritz, D.F.;
Friedrich, K.;
Martin, G.M.;
Kubisch, C.;
Oshima, J.

Publication type:

Article

Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons.

Published in:

2005

By:

Dib-Hajj SD;
Rush AM;
Cummins TR;
Hisama FM;
Novella S;
Tyrrell L;
Marshall L;
Waxman SG

Publication type:

Journal Article

Gain-of-function mutation in Na<inf>v</inf>1.7 in familial erythromelalgia induces bursting of sensory neurons.

Published in:

Brain: A Journal of Neurology, 2005, v. 128, n. 8, p. 1847, doi. 10.1093/brain/awh514

By:

S. D. Dib-Hajj;
A. M. Rush;
T. R. Cummins;
F. M. Hisama;
S. Novella;
L. Tyrrell;
L. Marshall;
S. G. Waxman

Publication type:

Article

Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth.

Published in:

Journal of Neuroscience, 2008, v. 28, n. 49, p. 13161, doi. 10.1523/JNEUROSCI.3828-08.2008

By:

Budel, Stéphane;
Padukkavidana, Thihan;
Liu, Betty P.;
Feng, Zeny;
Hu, Fenghua;
Johnson, Sam;
Lauren, Juha;
Park, James H.;
McGee, Aaron W.;
Ji Liao;
Stillman, Althea;
Ji-Eun Kim;
Bao-Zhu Yang;
Sodi, Stefano;
Gelernter, Joel;
Hongyu Zhao;
Hisama, Fuki;
Arnsten, Amy F. T.;
Strittmatter, Stephen M.

Publication type:

Article

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Published in:

Neurogenetics, 2007, v. 8, n. 2, p. 131, doi. 10.1007/s10048-006-0071-z

By:

Chen, Haijun;
Hehn, Christian;
Kaczmarek, Leonard;
Ment, Laura;
Pober, Barbara;
Hisama, Fuki

Publication type:

Article

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer.

Published in:

2020

By:

Payne, Thomas H;
Zhao, Lue Ping;
Le, Calvin;
Wilcox, Peter;
Yi, Troy;
Hinshaw, Jesse;
Hussey, Duncan;
Kostrinsky-Thomas, Alex;
Hale, Malika;
Brimm, John;
Hisama, Fuki M

Publication type:

journal article

Progress in Molecular Genetics of Alzheimer's Disease.

Published in:

Neuroscientist, 1996, v. 2, n. 1, p. 3, doi. 10.1177/107385849600200106

By:

HISAMA, FUKI M.;
SCHELLENBERG, GERARD D.

Publication type:

Article

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Published in:

BMC Genomics, 2014, v. 15, n. 1, p. 22, doi. 10.1186/1471-2164-15-1127

By:

Juan Geng;
Picker, Jonathan;
Zhaojing Zheng;
Xiaoqing Zhang;
Jian Wang;
Fuki Hisama;
Brown, David W.;
Mullen, Mary P.;
Harris, David;
Stoler, Joan;
Seman, Ann;
Miller, David T.;
Qihua Fu;
Roberts, Amy E.;
Yiping Shen

Publication type:

Article

Inhibitory Effects of Phytoncide Solution on Melanin Biosynthesis.

Published in:

Bioscience, Biotechnology & Biochemistry, 2010, v. 74, n. 5, p. 918, doi. 10.1271/bbb.90700

By:

Fujimori, Hiroaki;
Hisama, Masayoshi;
Shibaya,a, Hiroharu;
Kawase, Atsushi;
Iwaki, Masahiro

Publication type:

Article

Human GABA<sub>B</sub> receptor 1 gene: Eight novel sequence variants.

Published in:

Human Mutation, 2001, v. 17, n. 4, p. 349, doi. 10.1002/humu.34

By:

Hisama, Fuki M.;
Gruen, Jeffrey R.;
Choi, Jenny;
Huseinovic, Masha;
Grigorenko, Elena L.;
Pauls, David;
Mattson, Richard H.;
Gelernter, Joel;
Wood, Frank B.;
Goei, Vita L.

Publication type:

Article

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.

Published in:

GeroScience, 2024, v. 46, n. 2, p. 2771, doi. 10.1007/s11357-023-00907-1

By:

Hisama, Fuki M.;
Pillai, Renuka Kandhaya;
Sidorova, Julia;
Patterson, Karynne;
Gokingco, Carolina;
Yacobi-Bach, Michal;
Oshima, Junko

Publication type:

Article

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome—the Myhre syndrome.

Published in:

GeroScience, 2021, v. 43, n. 3, p. 1481, doi. 10.1007/s11357-020-00318-6

By:

Kandhaya-Pillai, Renuka;
Hou, Deyin;
Zhang, Jiaming;
Yang, Xiaomeng;
Compoginis, Goli;
Mori, Takayasu;
Tchkonia, Tamara;
Martin, George M.;
Hisama, Fuki M.;
Kirkland, James L.;
Oshima, Junko

Publication type:

Article

Failure probability of implant-supported restorations using highly filled all-composite crowns.

Published in:

Quintessence International, 2007, v. 38, n. 7, p. e374

By:

Shimizu, Hiroshi;
Hisama, Kazuhiro;
Kurtz, Kenneth S.;
Takahashi, Yutaka;
Sato, Hironobu

Publication type:

Article

Listening to Listening: A Response to Nina Sun Eidsheim's The Race of Sound.

Published in:

Kalfou, 2022, v. 9, n. 2, p. 280

By:

Hisama, Ellie M.

Publication type:

Article

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.

Published in:

Genome Medicine, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13073-019-0698-7

By:

Gelman, Hannah;
Dines, Jennifer N.;
Berg, Jonathan;
Berger, Alice H.;
Brnich, Sarah;
Hisama, Fuki M.;
James, Richard G.;
Rubin, Alan F.;
Shendure, Jay;
Shirts, Brian;
Fowler, Douglas M.;
Starita, Lea M.

Publication type:

Article

Value of a genetics clinic evaluation in identifying women at risk for hereditary breast‐ovarian cancer syndrome.

Published in:

Journal of Genetic Counseling, 2021, v. 30, n. 6, p. 1591, doi. 10.1002/jgc4.1425

By:

Hinshaw, Jesse C.;
Zhao, Lue‐Ping;
Brimm, John E.;
Payne, Thomas H.;
Hisama, Fuki M.

Publication type:

Article

Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome.

Published in:

Journal of Genetic Counseling, 2016, v. 25, n. 3, p. 515, doi. 10.1007/s10897-015-9902-0

By:

Gallego, Carlos;
Perez, Matthew;
Burt, Amber;
Amendola, Laura;
Shirts, Brian;
Pritchard, Colin;
Hisama, Fuki;
Bennett, Robin;
Veenstra, David;
Jarvik, Gail

Publication type:

Article

Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.

Published in:

2016

By:

Cohen, Stacey A.;
Laurino, Mercy;
Bowen, Deborah J.;
Upton, Melissa P.;
Pritchard, Colin;
Hisama, Fuki;
Jarvik, Gail;
Fichera, Alessandro;
Sjoding, Britta;
Bennett, Robin L.;
Naylor, Lorraine;
Jacobson, Angela;
Burke, Wylie;
Grady, William M.

Publication type:

journal article

Permeation and Metabolism of a Novel Ascorbic Acid Derivative, Disodium Isostearyl 2-O-L-Ascorbyl Phosphate, in Human Living Skin Equivalent Models.

Published in:

Skin Pharmacology & Physiology, 2008, v. 21, n. 4, p. 235, doi. 10.1159/000139128

By:

Shibayama;
Hisama;
Matsuda;
Ohtsuki

Publication type:

Article

Porphyrin Network Polymers Prepared via a Click Reaction and Facilitated Oxygen Permeation Through Their Membranes.

Published in:

Macromolecular Rapid Communications, 2014, v. 35, n. 10, p. 976, doi. 10.1002/marc.201400038

By:

Chikushi, Natsuru;
Ohara, Emiko;
Hisama, Ayako;
Nishide, Hiroyuki

Publication type:

Article

Rare loss of function variants in candidate genes and risk of colorectal cancer.

Published in:

Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4

By:

Rosenthal, Elisabeth A.;
Shirts, Brian H.;
Amendola, Laura M.;
Horike-Pyne, Martha;
Robertson, Peggy D.;
Hisama, Fuki M.;
Bennett, Robin L.;
Dorschner, Michael O.;
Nickerson, Deborah A.;
Stanaway, Ian B.;
Nassir, Rami;
Vickers, Kathy T.;
Li, Christopher;
Grady, William M.;
Peters, Ulrike;
Jarvik, Gail P.;
NHLBI GO Exome Sequencing Project

Publication type:

Article

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Published in:

Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5

By:

Friedrich, Katrin;
Lee, Lin;
Leistritz, Dru F.;
Nürnberg, Gudrun;
Saha, Bidisha;
Hisama, Fuki M.;
Eyman, Daniel K.;
Lessel, Davor;
Nürnberg, Peter;
Chumei Li;
Garcia-F.-Villalta, María;
Kets, Carolien M.;
Schmidtke, Joerg;
Cruz, Vítor Tedim;
Van der Akker, Peter C.;
Boak, Joseph;
Peter, Dincy;
Compoginis, Goli;
Cefle, Kivanc;
Ozturk, Sukru

Publication type:

Article

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00366-9

By:

Gupta, Pankhuri;
Nakamichi, Kenji;
Bonnell, Alyssa C.;
Yanagihara, Ryan;
Radulovich, Nick;
Hisama, Fuki M.;
Chao, Jennifer R.;
Mustafi, Debarshi

Publication type:

Article

Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.

Published in:

2023

By:

Gupta, Pankhuri;
Nakamichi, Kenji;
Bonnell, Alyssa C.;
Yanagihara, Ryan;
Radulovich, Nick;
Hisama, Fuki M.;
Chao, Jennifer R.;
Mustafi, Debarshi

Publication type:

Case Study

Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.

Published in:

2018

By:

Hisama, Fuki Marie;
Oshima, Junko

Publication type:

Editorial

Letter from the Editor.

Published in:

2008

By:

Hisama, Ellie M.

Publication type:

Editorial

Letter from the Editor.

Published in:

Journal of the Society for American Music, 2007, v. 1, n. 1, p. vii, doi. 10.1017/S1752196307070058

By:

Hisama, Ellie M.

Publication type:

Article

Diversity, inclusion and equity in medical genetics: The time is now.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2817, doi. 10.1002/ajmg.a.61899

By:

Quintero‐Rivera, Fabiola;
Hisama, Fuki M.

Publication type:

Article

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 471, doi. 10.1002/ajmg.a.38053

By:

Purizaca‐Rosillo, Nelson;
Mori, Takayasu;
Benites‐Cóndor, Yamali;
Hisama, Fuki M.;
Martin, George M.;
Oshima, Junko

Publication type:

Article

Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2510, doi. 10.1002/ajmg.a.36664

By:

Lessel, Davor;
Saha, Bidisha;
Hisama, Fuki;
Kaymakamzade, Bahar;
Nurlu, Gulay;
Gursoy‐Özdemir, Yasemin;
Thiele, Holger;
Nürnberg, Peter;
Martin, George M.;
Kubisch, Christian;
Oshima, Junko

Publication type:

Article

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3002, doi. 10.1002/ajmg.a.34336

By:

Hisama, Fuki M.;
Lessel, Davor;
Leistritz, Dru;
Friedrich, Katrin;
McBride, Kim L.;
Pastore, Matthew T.;
Gottesman, Gary S.;
Saha, Bidisha;
Martin, George M.;
Kubisch, Christian;
Oshima, Junko

Publication type:

Article