Works matching Tay-Sachs disease and genetics

Results: 59

The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease.

Published in:

2007

By:

Scully, Jackie Leach

Publication type:

Book Review

The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay Sachs, Cystic Fibrosis and Sickle Cell Disease.

Published in:

2007

By:

Cowan, Ruth Schwartz

Publication type:

Book Review

The troubled dream of genetic medicine Ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease.

Published in:

2006

By:

Ostrer, Harry

Publication type:

Book Review

The troubled dream of genetic medicine. Ethnicity and innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease– by Wailoo, Keith and Pemberton, Stephen.

Published in:

2008

By:

Bradby, Hannah

Publication type:

Book Review

The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease.

Published in:

2006

By:

Zallen, Doris Teichler

Publication type:

Book Review

The Troubled Dream of Genetic Medicine: Ethnicity and Innovation in Tay-Sachs, Cystic Fibrosis, and Sickle Cell Disease.

Published in:

2008

By:

Crenner, Christopher

Publication type:

Book Review

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model.

Published in:

European Journal of Pediatrics, 2000, v. 159, n. 15, p. S192, doi. 10.1007/PL00014401

By:

Kaback, Michael M.

Publication type:

Article

Preimplantation genetic diagnosis for Tay-Sachs disease: Successful pregnancy after pre-embryo biopsy and gene amplification by polymerase chain reaction.

Published in:: International Journal of Gynecology & Obstetrics, 1996, v. 52, n. 1, p. 113, doi. 10.1016/0020-7292(96)82820-7
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

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

Genetic cause of a juvenile form of tay-sachs disease in a lebanese child.

Published in:

Annals of Neurology, 1991, v. 29, n. 1, p. 104, doi. 10.1002/ana.410290120

By:

Boustany, Rose-Mary N.;
Tanaka, Akemi;
Nishimoto, Junji;
Suzuki, Kunihiko

Publication type:

Article

The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.

Published in:

Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712

By:

Reuter, Shelley Z.

Publication type:

Article

Evolutionary explanations in medical and health profession courses: are you answering your students' "why" questions?

Published in:

BMC Medical Education, 2005, v. 5, p. 16, doi. 10.1186/1472-6920-5-16

By:

Harris, Eugene E.;
Malyango, Avelin A.

Publication type:

Article

The mystery of the mystery of common genetic diseases.

Published in:

Biology & Philosophy, 2010, v. 25, n. 2, p. 183, doi. 10.1007/s10539-009-9184-8

By:

Valles, Sean A.

Publication type:

Article

Jewish genetic screening grows despite questions about breadth.

Published in:

Nature Medicine, 2011, v. 17, n. 6, p. 639, doi. 10.1038/nm0611-639

By:

Dolgin, Elie

Publication type:

Article

Tay Sachs disease carrier testing in the UK Jewish population.

Published in:

British Journal of Midwifery, 2010, v. 18, n. 4, p. 220, doi. 10.12968/bjom.2010.18.4.47371

By:

Alberg, Corinna;
Levene, Sara;
Burton, Hilary

Publication type:

Article

Therapeutic Uses of Bacterial Subunit Toxins.

Published in:

Toxins, 2021, v. 13, n. 6, p. 378, doi. 10.3390/toxins13060378

By:

Lingwood, Clifford

Publication type:

Article

Book Reviews.

Published in:

2007

By:

Egorova, Yulia;
Tomasini, Floris;
Weiner, Kate

Publication type:

Book Review

Silencing of B4Galnt1 Gene Prevents GM2 Accumulation in Tay-Sachs Cells.

Published in:

Advances in Cell & Gene Therapy, 2024, v. 2024, p. 1, doi. 10.1155/2024/1099113

By:

Ateş, Nurselin;
İnci, Orhan Kerim;
Demir, Seçil Akyıldız;
Seyrantepe, Volkan

Publication type:

Article

Induction of Exocytosis Rescues Lysosomal GM2 Accumulation in Tay-Sachs Disease.

Published in:

Advances in Cell & Gene Therapy, 2024, v. 2024, p. 1, doi. 10.1155/2024/4047025

By:

Ateş, Nurselin;
Demir, Secil Akyildiz;
Seyrantepe, Volkan

Publication type:

Article

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1400989

By:

Bilyalova, Alina;
Shagimardanova, Elena;
Bilyalov, Airat;
Zaripova, Marina;
Shigapova, Leyla;
Gazizova, Guzel;
Mazin, Pavel;
Tatiana, Bukina;
Gusev, Oleg

Publication type:

Article

Novel HexA splice site mutations in a patient with late atypical onset Tay-Sachs disease: importance of combined NGS and biochemical analysis.

Published in:

Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1400989

By:

Bilyalova, Alina;
Shagimardanova, Elena;
Bilyalov, Airat;
Zaripova, Marina;
Shigapova, Leyla;
Gazizova, Guzel;
Mazin, Pavel;
Tatiana, Bukina;
Gusev, Oleg

Publication type:

Article

BOALA GENETICĂ ÎN PEDIATRIE. PROBLEME DE DIAGNOSTIC POZITIV ȘI DIFERENȚIAL. BOALA GENETICĂ ÎN PEDIATRIE. PROBLEME DE DIAGNOSTIC POZITIV ȘI DIFERENȚIAL.

Published in:

Acta Medica Marisiensis, 2018, v. 64, p. 35

By:

Șulea, Paula-Anca;
Grama, Alina

Publication type:

Article

Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.

Published in:

Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10

By:

Aslanger, Ayça Dilruba;
Güleç, Çağrı;
Kalaycı, Tuğba;
Şengenç, Esma;
Avcı, Şahin;
Altunoğlu, Umut;
Karaman, Volkan;
Toksoy, Güven;
Karaca, Meryem;
İşcan, Akın;
Gökçay, Gülden;
Yeşil, Gözde;
Uyguner, Oya

Publication type:

Article

Clinical and Molecular Findings of Nine Cases with Tay-Sachs Disease From Türkiye.

Published in:

Medical Journal of Bakirkoy, 2023, v. 19, n. 2, p. 222, doi. 10.4274/BMJ.galenos.2023.2022.9-10

By:

Aslanger, Ayça Dilruba;
Güleç, Çağrı;
Kalaycı, Tuğba;
Şengenç, Esma;
Avcı, Şahin;
Altunoğlu, Umut;
Karaman, Volkan;
Toksoy, Güven;
Karaca, Meryem;
İşcan, Akın;
Gökçay, Gülden;
Yeşil, Gözde;
Uyguner, Oya

Publication type:

Article

The troubled dream of genetic medicine.

Published in:

2006

By:

Ostrer, Harry

Publication type:

Book Review

Identification of an altered splice site in Ashkenazi Tay-Sachs disease.

Published in:

Nature, 1988, v. 333, n. 6168, p. 85, doi. 10.1038/333085a0

By:

Arpaia, E.;
Dumbrille-Ross, A.;
Maler, T.;
Neote, K.;
Tropak, M.;
Troxel, C.;
Stirling, J. L.;
Pitts, J. S.;
Bapat, B.;
Lamhonwah, A. M.;
Mahuran, D. J.;
Schuster, S. M.;
Clarke, J. T. R.;
Lowden, J. A.;
Gravel, R. A.

Publication type:

Article

β-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.

Published in:

Human Reproduction, 1992, v. 7, n. 9, p. 1278

By:

Sermon, K.;
Lissens, W.;
Tarlatzis, B.;
Braude, P.R.;
Devroey, P.;
Van Steirteghem, A.;
Liebaers, I.

Publication type:

Article

Beta-N-acetylhexosaminidase activity in human oocytes and preimplantation embryos.

Published in:

1992

By:

Sermon, K;
Lissens, W;
Tarlatzis, B;
Braude, P R;
Devroey, P;
Van Steirteghem, A;
Liebaers, I

Publication type:

journal article

The emerging technology and application of preimplantation genetic diagnosis.

Published in:

Journal of Law, Medicine & Ethics, 1998, v. 26, n. 1, p. 7, doi. 10.1111/j.1748-720X.1998.tb01901.x

By:

Tasca, Richard J.;
McClure, Michael E.

Publication type:

Article

Sialidase-mediated depletion of G[sub m2] ganglioside in Tay-Sachs neuroglia cells.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 6, p. 1111, doi. 10.1093/hmg/8.6.1111

By:

Igdoura, Suleiman A.;
Mertineit, Carmen;
Trasler, Jacquetta M.;
Gravel, Roy A.

Publication type:

Article

Retrovirus-mediated enzymatic correction of Tay-Sachs defect in transduced and non-transduced cells.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 831, doi. 10.1093/hmg/7.5.831

By:

Guidotti, J.‐E.;
Akli, S.;
Castelnau‐Ptakhine, L.;
Kahn, A.;
Poenaru, L.

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

Prenatal genetic carrier testing using triple disease screening.

Published in:

JAMA: Journal of the American Medical Association, 1997, v. 278, n. 15, p. 1268, doi. 10.1001/jama.1997.03550150072038

By:

Eng, Christine M.;
Schechter, Clyde

Publication type:

Article

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)

Published in:

2014

By:

Karimzadeh, Parvaneh;
Jafari, Narjes;
Nejad Biglari, Habibeh;
Jabbeh Dari, Sayena;
Ahmad Abadi, Farzad;
Alaee, Mohammad-Reza;
Nemati, Hamid;
Saket, Sasan;
Tonekaboni, Seyed Hasan;
Taghdiri, Mohammad-Mahdi;
Ghofrani, Mohammad

Publication type:

Journal Article

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 3, p. 55

By:

KARIMZADEH, Parvaneh;
JAFARI, Narjes;
NEJAD BIGLARI, Habibeh;
JABBEH DARI, Sayena;
AHMAD ABADI, Farzad;
ALAEE, Mohammad-Reza;
NEMATI, Hamid;
SAKET, Sasan;
TONEKABONI, Seyed Hasan;
TAGHDIRI, Mohammad-Mahdi;
GHOFRANI, Mohammad

Publication type:

Article

Use and design of genetic screening programmes--a study.

Published in:

Journal of Biological Education (Society of Biology), 1998, v. 32, n. 2, p. 97, doi. 10.1080/00219266.1998.9655604

By:

Sullivan, Helen O'

Publication type:

Article

Leukodystrophies underlying cryptic spastic paraparesis: frequency and phenotype in 76 patients.

Published in:

European Journal of Neurology, 2014, v. 21, n. 7, p. 983, doi. 10.1111/ene.12423

By:

Müller vom Hagen, J.;
Karle, K. N.;
Schüle, R.;
Krägeloh ‐ Mann, I.;
Schöls, L.

Publication type:

Article

REGULATION OF NEURONAL GANGLIOSIDE DEGRADATION BY GENETIC AND POSTTRANSLATIONAL MODIFIERS.

Published in:

Turkish Journal of Biochemistry / Turk Biyokimya Dergisi, 2023, v. 48, p. 56

By:

Sandhoff, Konrad

Publication type:

Article

Real-time PCR with molecular beacons provides a highly accurate assay for detection of Tay-Sachs alleles in single cells.

Published in:

Prenatal Diagnosis, 2002, v. 22, n. 12, p. 1130, doi. 10.1002/pd.500

By:

Rice, John E.;
Sanchez, J. Aquiles;
Pierce, Kenneth E.;
Wangh, Lawrence J.

Publication type:

Article

Population-based carrier screening and prenatal diagnosis.

Published in:

2004

By:

Strom CM

Publication type:

Journal Article

MANAGING THE INCIDENCE OF SICKLE CELL ANEMIA THROUGH GENETIC COUNSELING.

Published in:

Management Science, 1977, v. 23, n. 12, p. 1261, doi. 10.1287/mnsc.23.12.1261

By:

Meredith, Jack

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

Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

Published in:

Journal of Genetic Counseling, 2016, v. 25, n. 1, p. 18, doi. 10.1007/s10897-015-9880-2

By:

Rose, E.;
Schreiber-Agus, N.;
Klugman, S.;
Goldwaser, T.;
Bajaj, K.

Publication type:

Article

Podocyte pathology and nephropathy – sphingolipids in glomerular diseases.

Published in:

Frontiers in Endocrinology, 2014, v. 5, p. 1, doi. 10.3389/fendo.2014.00127

By:

Merscher, Sandra;
Fornoni, Alessia

Publication type:

Article

DNA Prime Editing: A New CRISPR-Based Method to Correct Most Disease-Causing Mutations.

Published in:

JAMA: Journal of the American Medical Association, 2020, v. 323, n. 5, p. 405, doi. 10.1001/jama.2019.21827

By:

Hampton, Tracy

Publication type:

Article

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases.

Published in:

2020

By:

Lyn, Nicole;
Pulikottil-Jacob, Ruth;
Rochmann, Camille;
Krupnick, Robert;
Gwaltney, Chad;
Stephens, Nick;
Kissell, Julie;
Cox, Gerald F.;
Fischer, Tanya;
Hamed, Alaa

Publication type:

journal article

GM2 Ganglioside as a Regulator of Pyramidal Neuron Dendritogenesis<sup>a</sup>.

Published in:

Annals of the New York Academy of Sciences, 1998, v. 845, n. 1, p. 188, doi. 10.1111/j.1749-6632.1998.tb09671.x

By:

WALKLEY, STEVEN U.;
SIEGEL, DONALD A.;
DOBRENIS, KOSTANTIN;
ZERVAS, MARK

Publication type:

Article

Stigmatization of Carrier Status: Social Implications of Heterozygote Genetic Screening Programs.

Published in:

American Journal of Public Health, 1978, v. 68, n. 11, p. 1116

By:

Schmidt, Robert M.;
Kenen, Regina H.

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