Works matching DE "FAMILIAL diseases"

Results: 2494

Management of hypophosphatemia in nocturnal hemodialysis with phosphate-containing enema: A technical study.

Published in:

Hemodialysis International, 2011, v. 15, n. 2, p. 219, doi. 10.1111/j.1542-4758.2011.00533.x

By:

SU, Winnie S.;
LEKAS, Poli;
CARLISLE, Euan J.;
COWIN, Richard;
BELLAMY, James;
MARGETTS, Peter J.;
BRIMBLE, Kenneth Scott;
CLASE, Catherine M.;
GANGJI, Azim S.

Publication type:

Article

Psychosocial and Behavioral Impact of Genetic Counseling and Testing.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 97

By:

Peshkin, Beth N.;
Vadaparampil, Susan Thomas;
Miree, Cheryl A.;
Wilson, Crystal;
Jacobsen, Paul. B.

Publication type:

Article

International Perspectives on Genetic Counseling and Testing for Breast Cancer Risk.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 109

By:

Peshkin, Beth N.;
Meiser, Bettina;
Gaff, Clara;
Julian-Reynier, Claire;
Biesecker, Barbara B.;
Esplen, Mary Jane;
Vodermaier, Andrea;
Tibben, Aad

Publication type:

Article

A Principle-Based Approach to Ethical Issues in Predictive Genetic Testing for Breast Cancer.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 137

By:

Peshkin, Beth N.;
Quillin, John M.;
Lyckholm, Laurie J.

Publication type:

Article

Ten-year mortality from Creutzfeldt-Jakob disease in Cyprus.

Published in:

Eastern Mediterranean Health Journal, 2008, v. 14, n. 3, p. 715

By:

Papacostas, S.;
Malikides, A.;
Petsa, M.;
Kyriakides, T.

Publication type:

Article

Interpretation of Genome-Wide Association Study Results.

Published in:

Oncology (08909091), 2010, v. 24, n. 7, p. 643

By:

Dezheng Huo;
Olopade, Olufunmilayo

Publication type:

Article

The A431E mutation in PSEN1 causing Familial Alzheimer’s Disease originating in Jalisco State, Mexico: an additional fifteen families.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 277, doi. 10.1007/s10048-006-0053-1

By:

Murrell, Jill;
Ghetti, Bernardino;
Cochran, Elizabeth;
Macias-Islas, Miguel;
Medina, Luis;
Varpetian, Arousiak;
Cummings, Jeffrey;
Mendez, Mario;
Kawas, Claudia;
Chui, Helena;
Ringman, John

Publication type:

Article

Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 265, doi. 10.1007/s10048-006-0057-x

By:

Stogmann, E.;
Lichtner, P.;
Baumgartner, C.;
Schmied, M.;
Hotzy, C.;
Asmus, F.;
Leutmezer, F.;
Bonelli, S.;
Assem-Hilger, E.;
Vass, K.;
Hatala, K.;
Strom, T.;
Meitinger, T.;
Zimprich, F.;
Zimprich, A.

Publication type:

Article

Familial risks of hospitalization for Parkinson’s disease in first-degree relatives: a nationwide follow-up study from Sweden.

Published in:

Neurogenetics, 2006, v. 7, n. 4, p. 231, doi. 10.1007/s10048-006-0055-z

By:

Sundquist, Kristina;
Xinjun Li;
Hemminki, Kari

Publication type:

Article

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 185, doi. 10.1007/s10048-005-0012-2

By:

Bassi, Maria;
Balottin, Umberto;
Panzeri, Chris;
Piccinelli, Paolo;
Castaldo, Pasqualina;
Barrese, Vincenzo;
Soldovieri, Maria;
Miceli, Francesco;
Colombo, Maria;
Bresolin, Nereo;
Borgatti, Renato;
Taglialatela, Maurizio

Publication type:

Article

Familial risks for migraine and other headaches among siblings based on hospitalizations in Sweden.

Published in:

Neurogenetics, 2005, v. 6, n. 4, p. 217, doi. 10.1007/s10048-005-0019-8

By:

Hemminki, Kari;
Li, Xinjun;
Johansson, Sven-Erik;
Sundquist, Kristina;
Sundquist, Jan

Publication type:

Article

Nörobehçet Hastalιğι ve İlk Atak Psikoz: Bir Olgu Sunumu.

Published in:

Klinik Psikofarmakoloji Bulteni, 2006, v. 16, n. 2, p. 114

By:

Verim, Samet;
Gülsün, Murat;
Taşçı, İlker

Publication type:

Article

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

Published in:

2006

By:

Stacey, Simon N.;
Sulem, Patrick;
Johannsson, Oskar T.;
Helgason, Agnar;
Gudmundsson, Julius;
Kostic, Jelena P.;
Kristjansson, Kristleifur;
Jonsdottir, Thora;
Sigurdsson, Helgi;
Hrafnkelsson, Jon;
Johannsson, Jakob;
Sveinsson, Thorarinn;
Myrdal, Gardar;
Grimsson, Hlynur Niels;
Bergthorsson, Jon T.;
Amundadottir, Laufey T.;
Gulcher, Jeffrey R.;
Thorsteinsdottir, Unnur;
Kong, Augustine;
Stefansson, Kari

Publication type:

journal article

Cancer in Families.

Published in:

PLoS Medicine, 2004, v. 1, n. 3, p. 171, doi. 10.1371/journal.pmed.0010069

By:

Amundadottir, L. T.;
Thorvaldsson, S.;
Gudbjartsson, D. F.;
Sulem, P.;
Kristjansson, K.

Publication type:

Article

Aplasia cutis congenita: Two cases of non-scalp lesions.

Published in:

2009

By:

Abulezz, Tarek A.;
Shalkamy, Mahmoud A.

Publication type:

Case Study

An interesting case of familial chylomicronemia syndrome in a cleft palate child.

Published in:

2008

By:

Adenwalla, H. S.;
Narayanan, P. V.;
Rajshree, C. J.;
Santhakumar, Rati

Publication type:

Case Study

Familial distichiasis.

Published in:

2007

By:

Chowdhury, Siti Roy;
Chatterjee, Shamita

Publication type:

Case Study

Surgery for congenital megacolon in a twenty-two year old male.

Published in:

Indian Journal of Surgery, 2004, v. 66, n. 1, p. 44

By:

Dhurjaty, D.C. Madhusudana Rao. C.;
Duttaluri, Seshadrisekhar;
Lavanya, Sridevi

Publication type:

Article

A REVEALing Study of Consumer Genomics Response.

Published in:

Bio-IT World, 2009, v. 8, n. 5, p. 8

By:

Davies, Kevin

Publication type:

Article

Studies of familial tumors using models: genotype, phenotype, and dramatype in carcinogenesis.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 257, doi. 10.1007/s10147-004-0416-2

By:

Hino, Okio

Publication type:

Article

Association of HNPCC and endometrial cancers.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 262, doi. 10.1007/s10147-004-0402-8

By:

Banno, Kouji;
Susumu, Nobuyuki;
Yanokura, Megumi;
Hirao, Takeshi;
Iwata, Takashi;
Hirasawa, Akira;
Aoki, Daisuke;
Sugano, Kokichi;
Nozawa, Shiro

Publication type:

Article

Mechanism of carcinogenesis in familial tumors.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 232, doi. 10.1007/s10147-004-0430-4

By:

Tamura, Kazuo;
Utsunomiya, Joji;
Iwama, Takeo;
Furuyama, Jun-ichi;
Takagawa, Tetsuya;
Takeda, Naohisa;
Fukuda, Yoshihiro;
Matsumoto, Takayuki;
Nishigami, Takashi;
Kusuhara, Kiyoshi;
Sagayama, Ken;
Nakagawa, Kazuhiko;
Yamamura, Takehira

Publication type:

Article

A clinical overview of familial adenomatous polyposis derived from the database of the Polyposis Registry of Japan.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 308, doi. 10.1007/s10147-004-0414-4

By:

Iwama, Takeo;
Tamura, Kazuo;
Morita, Takayuki;
Hirai, Takashi;
Hasegawa, Hirotoshi;
Koizumi, Koichi;
Shirouzu, Kazuo;
Sugihara, Kenichi;
Yamamura, Takehira;
Muto, Tetsuichiro;
Utsunomiya, Joji

Publication type:

Article

Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 304, doi. 10.1007/s10147-004-0405-5

By:

Fukushima, Yoshimitsu;
Sakurai, Akihiro

Publication type:

Article

Chemoprevention of carcinogenesis in familial tumors.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 299, doi. 10.1007/s10147-004-0417-1

By:

Ishikawa, Hideki

Publication type:

Article

Molecular genetic diagnosis of familial tumors.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 246, doi. 10.1007/s10147-004-0421-5

By:

Tomita, Naohiro;
Oto, Michiei

Publication type:

Article

A historical perspective on familial cancer: results and vision of the Polyposis Center Project.

Published in:

International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 215, doi. 10.1007/s10147-004-0410-8

By:

Utsunomiya, Joji;
Iwama, Takeo;
Miyaki, Michiko;
Tamura, Kazuo;
Arai, Masami

Publication type:

Article

Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #668 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/668.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 6, p. 496, doi. 10.1002/humu.9197

By:

Evelyne Colomb;
Josseline Kaplan;
Henri-Jean Garchon

Publication type:

Article

Novel MLH1 mutations and a novel MSH2 polymorphism identified by SSCP and DHPLC in Portuguese HNPCC families(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #663 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/663.pdf)

Published in:

Human Mutation, 2003, v. 22, n. 5, p. 419, doi. 10.1002/humu.9192

By:

G. Isidro;
S. Matos;
V. Gonçalves;
C. Cavaleiro;
O. Antunes;
C. Marinho;
J. Soares;
M.G. Boavida

Publication type:

Article

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #622 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/622.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 655, doi. 10.1002/humu.9151

By:

Marina De Rosa;
Maria I. Scarano;
Luigi Panariello;
Gemma Morelli;
Gabriele Riegler;
Giovanni B. Rossi;
Alfonso Tempesta;
Giovanni Romano;
Andrea Renda;
Guido Pettinato;
Paola Izzo

Publication type:

Article

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: Different incidences in familial and sporadic disease(Communicated by Christine Van Broeckhoven)Online Citation: Human Mutation, Mutation in Brief #615 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/615.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 6, p. 651, doi. 10.1002/humu.9144

By:

Eric Schulze-Bahr;
Lars Eckardt;
Günter Breithardt;
Karlheinz Seidl;
Thomas Wichter;
Christian Wolpert;
Martin Borggrefe;
Wilhelm Haverkamp

Publication type:

Article

Genetic analysis of familial colorectal cancer in Israeli ArabsCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #594 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/594.pdf.

Published in:

Human Mutation, 2003, v. 21, n. 4, p. 446, doi. 10.1002/humu.9123

By:

Rakefet Chen?Shtoyerman;
Livia Theodor;
Ester Harmati;
Eitan Friedman;
Samir Dacka;
Yael Kopelman;
Amos Sternberg;
Raz Zarivach;
Simon Bar?Meir;
Zvi Fireman

Publication type:

Article

SLCO1B1 haplotypes are not associated with atorvastatin-induced myalgia in Brazilian patients with familial hypercholesterolemia.

Published in:

European Journal of Clinical Pharmacology, 2012, v. 68, n. 3, p. 273, doi. 10.1007/s00228-011-1125-1

By:

Santos, Paulo;
Gagliardi, Ana;
Miname, Márcio;
Chacra, Ana;
Santos, Raul;
Krieger, Jose;
Pereira, Alexandre

Publication type:

Article

Dynamics of long-term statin therapy.

Published in:

European Journal of Clinical Pharmacology, 2011, v. 67, n. 9, p. 925, doi. 10.1007/s00228-011-1019-2

By:

Korhonen, Maarit;
Helin-Salmivaara, Arja;
Huupponen, Risto

Publication type:

Article

LAMP-2 deficient mice show depressed cardiac contractile function without significant changes in calcium handling.

Published in:

Basic Research in Cardiology, 2006, v. 101, n. 4, p. 281, doi. 10.1007/s00395-006-0591-6

By:

Stypmann, Jörg;
Janssen, Paul;
Prestle, Jürgen;
Engelen, Markus;
Kögler, Harald;
Lüllmann-Rauch, Renate;
Eckardt, Lars;
von Figura, Kurt;
Landgrebe, Jobst;
Mleczko, Anna;
Saftig, Paul

Publication type:

Article

Risk Factors in Patients with Hereditary Gallstones in Chinese Pedigrees.

Published in:

Medical Principles & Practice, 2012, v. 21, n. 5, p. 467, doi. 10.1159/000337437

By:

Cui, Yunfeng;
Li, Zhonglian;
Zhao, Erpeng;
Cui, Naiqiang

Publication type:

Article

Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine: A Case-Control Study in Armenia.

Published in:

Medical Principles & Practice, 2009, v. 18, n. 6, p. 441, doi. 10.1159/000235892

By:

Sevoyan, Maria K.;
Sarkisian, Tamara F.;
Beglaryan, Ara A.;
Shahsuvaryan, Gohar R.;
Armenian, Haroutune K.

Publication type:

Article

Homozygous Familial Hypercholesterolemia with Generalized Arterial Disease.

Published in:

Medical Principles & Practice, 2007, v. 16, n. 1, p. 75, doi. 10.1159/000096146

By:

Selvan, J. P.;
Uthaman, B.;
Abushaban, L.;
Jebaraj, R.

Publication type:

Article

Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 1, p. 57, doi. 10.1159/000231567

By:

Chen-Chi Wu;
Ying-Chang Lu;
Pei-Jer Chen;
Po-Lin Yeh;
Yi-Nin Su;
Wuh-Liang Hwu;
Chuan-Jen Hsu

Publication type:

Article

Insights into the Burden of T1D: Genetic Links and Familial Considerations from UCSD Practitioners.

Published in:

Patient Care (Online), 2024, p. 1

By:

Goldman, Jennifer D.

Publication type:

Article

Isolated Voice Tremor: A Clinical Variant of Essential Tremor or a Distinct Clinical Phenotype?

Published in:

Tremor & Other Hyperkinetic Movements, 2020, p. 1, doi. 10.7916/tohm.v0.738

By:

Barkmeier-Kraemer, Julie M.

Publication type:

Article

Diagnosis of Spinocerebellar Ataxia in the West Indies.

Published in:

2018

By:

Yearwood, Ashley K.;
Rethi, Shruthi;
Figueroa, Karla P.;
Walker, Ruth H.;
Sobering, Andrew K.

Publication type:

Case Study

Genetic Testing Preferences of Individuals in Families with Essential Tremor.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D8B296RK

By:

Naranjo, Kelly V.;
Park, Jemin;
Chen, Karen P.;
Hernandez, Nora;
Clark, Lorraine N.;
Ottman, Ruth;
Louis, Elan D.

Publication type:

Article

Case of Bothrops Atrox: Hereditary Cholesterolemia.

Published in:

American Journal of Homeopathic Medicine, 2010, v. 103, n. 3, p. 117

By:

Master, Farokh

Publication type:

Article

Primary familial brain calcifications linked with a novel SLC20A2 gene mutation in a Chinese family.

Published in:

Journal of Neurogenetics, 2017, v. 31, n. 3, p. 149, doi. 10.1080/01677063.2017.1336235

By:

Mi, Tao-Mian;
Mao, Wei;
Cai, Yan-Ning;
Yang, Cai-Xia;
Wang, Chao-Dong;
Xu, Er-He;
Zhang, Hui;
Chan, Piu

Publication type:

Article

Papillary thyroid cancer in childhood: is parental screening helpful?

Published in:

ANZ Journal of Surgery, 2017, v. 87, n. 7/8, p. 615, doi. 10.1111/ans.13321

By:

Stephenson, Carlos;
Norlen, Olov;
Shun, Albert;
Karpelowsky, Jonathon;
Robinson, Bruce;
Delbridge, Leigh

Publication type:

Article

A bi-national perspective on the management of young patients with colorectal cancer: perspective.

Published in:

ANZ Journal of Surgery, 2013, v. 83, n. 9, p. 599, doi. 10.1111/ans.12245

By:

Frizelle, Frank A.;
Wakeman, Christopher J.

Publication type:

Article

Familial aggregation of Crohn's disease and necrotizing sarcoid-like granulomatous disease.

Published in:

European Journal of Rheumatology, 2015, v. 2, n. 3, p. 122, doi. 10.5152/eurjrheum.2015.0102

By:

Al-Mayouf, Sulaiman M.;
Albuhairan, Intisar;
Muzaffer, Mohammed;
AlMehaidib, Ali

Publication type:

Article

Familial Isolated Pituitary Adenomas.

Published in:

Medicina Moderna, 2016, v. 23, n. 1, p. 42

By:

Baciu, Ionela;
Radian, Serban;
Poiana, Catalina

Publication type:

Article

Successful Treatment of Hailey-Hailey Disease with Systemic Cyclosporine: Case Report.

Published in:

Turkiye Klinikleri Journal of Dermatology, 2017, v. 27, n. 2, p. 101, doi. 10.5336/dermato.2016-53980

By:

ŞAHIN, Gökhan;
ŞENTÜRK, Nilgün;
KOÇ ŞAHİN, Seda

Publication type:

Article