Works matching DE "TAY-Sachs disease"

Results: 184

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.

Published in:

Journal of Feline Medicine & Surgery, 2012, v. 14, n. 12, p. 900, doi. 10.1177/1098612X12454120

By:

Uddin, Mohammad M;
Tanimoto, Takeshi;
Yabuki, Akira;
Kotani, Takao;
Kuwamura, Mitsuru;
Chang, Hye-Sook;
Yamato, Osamu

Publication type:

Article

Heterozygote Detection for Autosomal Recessive Genetic Diseases.

Published in:

Clinical Pediatrics, 1974, v. 13, n. 4, p. 307, doi. 10.1177/000992287401300402

By:

Jackson, Laird G.

Publication type:

Article

A Genetic Differentiation.

Published in:

Clinical Pediatrics, 1973, v. 12, n. 9, p. 574, doi. 10.1177/000992287301200933

By:

Szalay, Glenn .

Publication type:

Article

Progressive Neurologic Disease and Blindness in an Infant.

Published in:

Clinical Pediatrics, 1972, v. 11, n. 2, p. 125, doi. 10.1177/000992287201100225

By:

Ziai, Mohsen;
Deely, Nicholas

Publication type:

Article

Understanding Tay-Sachs Disease.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 11, p. 653, doi. 10.1177/000992286600501104

By:

Volk, Bruno W.

Publication type:

Article

GM1 and GM2 gangliosides: recent developments.

Published in:

Biomolecular Concepts, 2014, v. 5, n. 1, p. 87, doi. 10.1515/bmc-2013-0039

By:

Bisel, Blaine;
Pavone, Francesco S.;
Calamai, Martino

Publication type:

Article

Tay--Sachs' Disease (Book).

Published in:

1965

By:

Anderson, Ingram F.

Publication type:

Book Review

Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632

By:

Lew, Raelia M;
Burnett, Leslie;
Proos, Anné L;
Barlow‐Stewart, Kristine;
Delatycki, Martin B;
Bankier, Agnes;
Aizenberg, Harry;
Field, Michael J;
Berman, Yemima;
Fleischer, Ronald;
Fietz, Michael

Publication type:

Article

A novel frameshift mutation of HEXA gene in the first family with classical infantile Tay-Sachs disease in Thailand.

Published in:

Neurology Asia, 2016, v. 21, n. 3, p. 281

By:

Boonyawat, Boonchai;
Phetthong, Tim;
Nabangchang, Charcrin;
Suwanpakdee, Piradee

Publication type:

Article

Brain Proton Magnetic Resonance Spectroscopy and Neuromuscular Pathology in a Patient With GM<sub>1</sub> Gangliosidosis.

Published in:

Journal of Child Neurology, 2008, v. 23, n. 1, p. 73, doi. 10.1177/0883073807307088

By:

Brunetti-Pierri, Nicola;
Bhattacharjee, Meenakshi B.;
Wang, Zhiyue J.;
Chu, Zili;
Wenger, David A.;
Potocki, Lorraine;
Hunter, Jill;
Scaglia, Fernando

Publication type:

Article

Diagnosis and Molecular Characterization of Non-classic Forms of Tay-Sachs Disease in Brazil.

Published in:

Journal of Child Neurology, 2006, v. 21, n. 6, p. 540, doi. 10.1177/08830738060210061101

By:

Rozenberg, R.;
Kok, F.;
Burin, M. G.;
Sá Miranda, M. C.;
Vasques, C.;
Henriques-Souza, A. M. M.;
Giugliani, R.;
Vainzof, Mariz;
Pereira, L. V.

Publication type:

Article

[sup 31]Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 5, p. 377, doi. 10.1177/088307380101600514

By:

Felderhoff-Mueser, Ursula;
Sperner, Jurgen;
Konstanzcak, Paul;
Navon, Ruth;
Weschke, Bernhard

Publication type:

Article

Beta-Galactosidase Gene Mutations in Patients With Slowly Progressive G[sub M1] Gangliosidosis.

Published in:

Journal of Child Neurology, 1997, v. 12, n. 4, p. 242, doi. 10.1177/088307389701200404

By:

Kaye, Edward M.;
Shalish, Christo;
Livermore, James;
Taylor, Harold A.;
Stevenson, Roger E.;
Breakefield, Xandra O.

Publication type:

Article

Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the <italic>HEXB G</italic>ene.

Published in:

Journal of Veterinary Internal Medicine, 2018, v. 32, n. 1, p. 340, doi. 10.1111/jvim.14862

By:

Wang, P.;
Henthorn, P. S.;
Lin, G.;
Takedai, T.;
Casal, M.;
Galban, E.

Publication type:

Article

GM2 Gangliosidosis (B Variant) in Two Japanese Chins: Clinical, Magnetic Resonance Imaging and Pathological Characteristics.

Published in:

Journal of Veterinary Internal Medicine, 2013, v. 27, n. 4, p. 771, doi. 10.1111/jvim.12118

By:

Freeman, A.C.;
Platt, S.R.;
Vandenberg, M.;
Holmes, S.;
Kent, M.;
Rech, R.;
Howerth, E.;
Mishra, S.;
O'Brien, D.P.;
Wenger, D.

Publication type:

Article

GM2 Gangliosidosis Variant 0 (Sandhoff-Like Disease) in a Family of Toy Poodles.

Published in:

Journal of Veterinary Internal Medicine, 2010, v. 24, n. 5, p. 1013, doi. 10.1111/j.1939-1676.2010.0564.x

By:

Tamura, S.;
Tamura, Y.;
Uchida, K.;
Nibe, K.;
Nakaichi, M.;
Hossain, M. A.;
Chang, H. S.;
Rahman, M. M.;
Yabuki, A.;
Yamato, O.

Publication type:

Article

Natural History of Adult Patients with GM2 Gangliosidosis.

Published in:

2020

By:

Masingue, Marion;
Dufour, Louis;
Lenglet, Timothée;
Saleille, Lisa;
Goizet, Cyril;
Ayrignac, Xavier;
Ory‐Magne, Fabienne;
Barth, Magali;
Lamari, Foudil;
Mandia, Daniele;
Caillaud, Catherine;
Nadjar, Yann;
Ory-Magne, Fabienne

Publication type:

journal article

Gangliosidose GM1: um relato de caso.

Published in:

2021

By:

Dienstmann, Guilherme;
Souza, Matheus L. R.;
Bergmann, Flávia Helena;
Castanhel, Francielle Del;
Simão, Camila S.;
Bohnert, Liara;
Cyrino, Lorena R.

Publication type:

Case Study

Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat

Published in:

Journal of Feline Medicine & Surgery, 2007, v. 9, n. 3, p. 232, doi. 10.1016/j.jfms.2006.11.003

By:

Hasegawa, Daisuke;
Yamato, Osamu;
Kobayashi, Masanori;
Fujita, Michio;
Nakamura, Shinichiro;
Takahashi, Kimimasa;
Satoh, Hiroyuki;
Shoda, Toru;
Hayashi, Daisuke;
Yamasaki, Masahiro;
Maede, Yoshimitsu;
Arai, Toshiro;
Orima, Hiromitsu

Publication type:

Article

A universal carrier test for the long tail of Mendelian disease.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2010, v. 21, n. 4, p. 537, doi. 10.1016/j.rbmo.2010.05.012

By:

Srinivasan, Balaji S.;
Evans, Eric A.;
Flannick, Jason;
Patterson, A. Scott;
Chang, Christopher C.;
Tuan Pham;
Sharon Young;
Kaushal, Amit;
Lee, James;
Jacobson, Jessica L.;
Patrizio, Pasquale

Publication type:

Article

Simultaneous preimplantation genetic diagnosis for Tay--Sachs and Gaucher disease.

Published in:

Reproductive BioMedicine Online (Reproductive Healthcare Limited), 2007, v. 15, n. 1, p. 83, doi. 10.1016/S1472-6483(10)60696-7

By:

Altarescu, Gheona;
Brooks, Barry;
Margalioth, Ehud;
Geva, Talia Eldar;
Levy-Lahad, Ephrat;
Renbaum, Paul

Publication type:

Article

Heterozygote Carrier Testing in High Schools Abroad: What are the Lessons for the U.S.?

Published in:

Journal of Law, Medicine & Ethics, 2006, v. 34, n. 4, p. 753, doi. 10.1111/j.1748-720X.2006.00096.x

By:

Ross, Lainie Friedman

Publication type:

Article

Skin disorders in Ashkenazi Jews: a review.

Published in:

International Journal of Dermatology, 2005, v. 44, n. 8, p. 630, doi. 10.1111/j.1365-4632.2005.02625.x

By:

Barankin, Benjamin;
Metelitsa, Andrei I.;
Schloss, Eric H.;
Wasel, Norman R.

Publication type:

Article

Tay-Sachs disease.

Published in:

Nursing Children & Young People, 2018, v. 30, n. 5, p. 17, doi. 10.7748/ncyp.30.5.17.s16

By:

Crawford, Doreen

Publication type:

Article

J clin psychiatry.

Published in:

JAMA: Journal of the American Medical Association, 1995, v. 274, n. 22, p. 1744

By:

Smith, Jeanette M.

Publication type:

Article

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 270, n. 19, p. 2307, doi. 10.1001/jama.1993.03510190063028

By:

Kaback, Michael;
Lim-Steele, Joyce

Publication type:

Article

The incidence and carrier frequency of Tay‐Sachs disease in the French‐Canadian population of Quebec based on retrospective data from 24 years, 1992–2015.

Published in:

Journal of Genetic Counseling, 2020, v. 29, n. 6, p. 1173, doi. 10.1002/jgc4.1284

By:

Sillon, Guillaume;
Allard, Pierre;
Drury, Stella;
Rivière, Jean‐Baptiste;
Bie, Isabelle

Publication type:

Article

Patients' reactions and follow‐up testing decisions related to Tay‐Sachs (HEXA) variants of uncertain significance results.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 4, p. 738, doi. 10.1002/jgc4.1108

By:

Yip, Tiffany;
Grinzaid, Karen A.;
Bellcross, Cecelia;
Moore, Reneé H.;
Page, Patricia Z.;
Hardy, Melanie W.

Publication type:

Article

Testing sheep for GM2 gangliosidosis.

Published in:

2014

By:

Lewis, Chris;
Wessels, Mark;
Carty, Helen;
Baird, Pauline;
Cox, Timothy;
Cachón, Begoña;
Wang, Susan;
Holmes, Paul;
Mackintosh, Adrienne;
Chianini, Francesca

Publication type:

Letter to the Editor

GM<sub>2</sub> gangliosidosis in British Jacob sheep.

Published in:

2014

By:

Wessels, Mark;
Carty, Helen;
Baird, Pauline;
Beggs, Norman;
Cox, Timothy;
Cachón, Begoña;
Wang, Susan;
Davies, Ian;
Holmes, Paul;
Mackintosh, Adrienne;
Chianini, Francesca

Publication type:

Letter

Testing Fate: Tay-Sachs Disease and the Right to Be Responsible.

Published in:

2017

By:

McKinney, Claire

Publication type:

Book Review

GM2 gangliosidosis variant B1 : Neuroradiological findings.

Published in:

Journal of Neurology, 2003, v. 250, n. 1, p. 17, doi. 10.1007/s00415-003-0925-3

By:

Grosso, Salvatore;
Farnetani, Maria Angela;
Berardi, Rosario;
Margollicci, Maria;
Galluzzi, Paolo;
Vivarelli, Rossella;
Morgese, Guido;
Ballestri, Paolo

Publication type:

Article

A mutation of HEXB gene in Sandhoff disease presenting as motor neuron disease.

Published in:

2010

By:

Suk-Won Ahn;
Su-Hyun Kim;
Yoon-Ho Hong;
Kwang-Woo Lee;
Jung-Joon Sung

Publication type:

Case Study

Testing Fate: Tay-Sachs Disease and the Right to Be Responsible.

Published in:

2018

By:

Muñoz, Vanessa Lopes

Publication type:

Book Review

Growth of genome screening needs debate.

Published in:

2011

By:

Goldstein, David B.

Publication type:

Opinion

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Published in:

Human Genetics, 2004, v. 114, n. 4, p. 366, doi. 10.1007/s00439-003-1072-8

By:

Amos Frisch;
Roberto Colombo;
Elena Michaelovsky;
Mazal Karpati;
Boleslaw Goldman;
Leah Peleg

Publication type:

Article

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Published in:

Human Genetics, 2003, v. 113, n. 1, p. 44, doi. 10.1007/s00439-003-0930-8

By:

Caciotti, Anna;
Bardelli, Tiziana;
Cunningham, John;
D'Azzo, Alessandra;
Zammarchi, Enrico;
Morrone, Amelia

Publication type:

Article

Co‐occurrence of central tegmental tract hyperintensity and Tay–Sachs disease: A case report.

Published in:

2023

By:

Balsak, Serdar;
Uyanık, Bulent;
Atasoy, Bahar;
Yozgat, Can Yilmaz;
Yurtsever, Ismail;
Alkan, Alpay

Publication type:

Case Study

Early juvenile Tay–Sachs disease with atypical symptoms.

Published in:

2019

By:

Sakurai, Mihoko;
Azuma, Junji;
Yamamoto, Takehisa;
Hamada, Yusuke;
Sakai, Norio

Publication type:

Case Study

Late Onset Tay-Sachs Disease in a Non-Jewish Patient: Case Report.

Published in:

Acta Medica Marisiensis, 2017, v. 63, n. 4, p. 199, doi. 10.1515/amma-2017-0034

By:

Maier, Smaranda;
Bajko, Zoltan;
Moţăţăianu, Anca;
Stoian, Adina;
Şchiopu, Bianca;
Bălaşa, Rodica

Publication type:

Article

Dermal Melanocytosis Associated with GM1-Gangliosidosis Type 1.

Published in:

2006

By:

BlochI, Leila David;
Matsumot, Fernando Yoshiaki;
Belda Jr., Walter;
Giugliani, Roberto;
Menezes, Luis Fernando;
Kim, Chong A.;
Cecília, Maria;
Machado, Matta Rivitti

Publication type:

Letter

Genetic Counseling and Wrongful Life.

Published in:

American Journal of Public Health, 1978, v. 68, n. 5, p. 501, doi. 10.2105/AJPH.68.5.501

By:

Curran, William J.

Publication type:

Article

Tay-Sachs Disease, Wrongful Life, and Preventative Malpractice.

Published in:

American Journal of Public Health, 1977, v. 67, n. 6, p. 568, doi. 10.2105/AJPH.67.6.568

By:

Curran, William J.

Publication type:

Article

Obstetricians' Attitudes toward Genetic Screening.

Published in:

American Journal of Public Health, 1977, v. 67, n. 5, p. 469, doi. 10.2105/AJPH.67.5.469

By:

Gordis, Leon;
Childs, Barton;
Roseman, Myra G.

Publication type:

Article

Screening for Tay-Sachs disease.

Published in:: American Family Physician, 1996, v. 53, n. 3, p. 991
Publication type:: Article

Gangliozidóza GM1 asociovaná s mnohopočetnými mongolskými škvrnami.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2012, v. 67, n. 4, p. 242

By:

Urbanová, V.;
Behunová, J.;
Petrovič, R.;
Podracká, L.

Publication type:

Article

Neonatal Hyperekplexia.

Published in:

Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201

By:

Tanigasalam, Vasanthan

Publication type:

Article

Testing Fate: Tay-Sachs Disease and the Right to be Responsible.

Published in:

Sociology of Health & Illness, 2017, v. 39, n. 5, p. 801, doi. 10.1111/1467-9566.12572

By:

Johnson, Katherine M.

Publication type:

Article

Testing Fate: Tay-Sachs Disease and the Right to Be Responsible.

Published in:

2018

By:

Pemberton, Stephen

Publication type:

Book Review

The politics of 'wrongful life' itself: discursive (mal)practices and Tay-Sachs disease.

Published in:

Economy & Society, 2007, v. 36, n. 2, p. 236, doi. 10.1080/03085140701254290

By:

Reuter, Shelley Z.

Publication type:

Article