Works matching Cystic fibrosis and genetics

Results: 1321

Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Published in:

2005

By:

Langfelder-Schwind L;
Kloza E;
Sugarman E;
Pettersen B;
Brown T;
Jensen K;
Marcus S;
Redman J;
National Society of Genetic Counselors. Subcommittee on Cystic Fibrosis Carrier Testing

Publication type:

Journal Article

Perspectives of people with cystic fibrosis considering parenthood surrounding preconception and prenatal genetic counseling and testing.

Published in:

Therapeutic Advances in Respiratory Disease, 2025, p. 1, doi. 10.1177/17534666251340334

By:

Rajanikanth, Gopika;
Prangley, Asher;
Stransky, Olivia M.;
Langfelder-Schwind, Elinor;
Vento, Jodie;
Felter, Elizabeth;
Kazmerski, Traci M.

Publication type:

Article

Cystic fibrosis genetics: from molecular understanding to clinical application.

Published in:

Nature Reviews Genetics, 2015, v. 16, n. 1, p. 45, doi. 10.1038/nrg3849

By:

Cutting, Garry R.

Publication type:

Article

A magyar Cystás Fibrosis Regiszter genetikai revíziója.

Published in:

Hungarian Medical Journal / Orvosi Hetilap, 2022, v. 163, n. 51, p. 2052, doi. 10.1556/650.2022.32655

By:

Deák, Anna;
Koczok, Katalin;
Bessenyei, Beáta;
Szűcs, Zsuzsanna;
Madar, László;
Csorba, Gabriella;
Orosz, Orsolya;
Laki, István;
Halász, Adrien;
Marsal, Géza;
Balogh, István

Publication type:

Article

Expansion and uncertainty: cystic fibrosis, classification and genetics.

Published in:

2003

By:

Hedgecoe AM

Publication type:

Journal Article

Optimal Genetic Screening for Cystic Fibrosis.

Published in:

Operations Research, 2022, v. 70, n. 1, p. 265, doi. 10.1287/opre.2021.2134

By:

El Hajj, Hussein;
Bish, Douglas R.;
Bish, Ebru K.

Publication type:

Article

جهػ های شنتیکی بیماری ظیعتیک فیبروزیط در ؼمال غرب ایران بر اظاض واحد ثبت بیماری ظیعتیک فیبروزیط

Published in:

Medical Journal of Tabriz University of Medical Sciences & Health Services, 2018, v. 40, n. 4, p. 31

By:

ماندانا رفیعی;
مرتضی جبارپور بنیادی;
امیر واحدی;
لیلا واحدی

Publication type:

Article

The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey.

Published in:

Balkan Medical Journal, 2021, v. 38, n. 6, p. 357, doi. 10.5152/balkanmedj.2021.21199

By:

Erdoğan, Murat;
Köse, Mehmet;
Pekcan, Sevgi;
Hangül, Melih;
Balta, Burhan;
Kiraz, Aslıhan;
Gönen, Gizem Akıncı;
Zamani, Ayşe Gül;
Yıldırım, Mahmut Selman;
Gürsoy, Tuğba Ramaslı;
Ezgu, Fatih;
Eyüpoğlu, Tuğba Şişmanlar;
Aslan, Ayse Tana

Publication type:

Article

Clinical and genetic profiles of paediatric patients with cystic fibrosis from Western India.

Published in:

Lung India, 2025, v. 42, n. 2, p. 103, doi. 10.4103/lungindia.lungindia_404_24

By:

Chandane, Parmarth;
Chauhan, Avantika;
Bhosale, Alpa;
Balaji, Mounnish;
Parekh, Nidhi

Publication type:

Article

Patient and family issues regarding genetic testing for cystic fibrosis: a review of prenatal carrier testing and newborn screening.

Published in:

2011

By:

Sparbel, Kathleen JH;
Tluczek, Audrey

Publication type:

Journal Article

VP103 Health Technology Assessment Of Genetic Tests For Cystic Fibrosis Carrier Screening In Italy.

Published in:

2017

By:

Agodi, Antonella;
Assael, Baroukh;
Calabro', Giovanna Elisa;
Campanella, Paolo;
Castellani, Carlo;
Coviello, Domenico;
Di Pietro, Maria Luisa;
Favaretti, Carlo;
Gurrieri, Fiorella;
Ripabelli, Giancarlo;
Sbrogio', Luca;
Teleman, Adele Anna;
Boccia, Stefania;
Vukovic, Vladimir

Publication type:

Abstract

Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 1, p. 213, doi. 10.1007/s10815-019-01635-2

By:

Chamayou, Sandrine;
Sicali, Maria;
Lombardo, Debora;
Alecci, Carmelita;
Ragolia, Carmen;
Maglia, Elena;
Liprino, Annalisa;
Cardea, Clementina;
Storaci, Giorgia;
Romano, Simona;
Guglielmino, Antonino

Publication type:

Article

International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 31, doi. 10.3390/ijns10020031

By:

Clark, Corinna C. A.;
Holder, Pru;
Boardman, Felicity K.;
Moody, Louise;
Cowlard, Jacqui;
Allen, Lorna;
Walter, Claire;
Bonham, James R.;
Chudleigh, Jane

Publication type:

Article

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Published in:

Andrology, 2018, v. 6, n. 1, p. 127, doi. 10.1111/andr.12450

By:

de Souza, D. A. S.;
Faucz, F. R.;
Pereira‐Ferrari, L.;
Sotomaior, V. S.;
Raskin, S.

Publication type:

Article

PATOLOGIE DIGESTIVĂ ASOCIATĂ ÎN FIBROZA CHISTICĂ: UN HAZARD GENETIC?

Published in:

Brasov Medical Journal / Jurnal Medical Brasovean, 2017, n. 2, p. 109

By:

Dracea, Laura Larisa;
Cristeiu, Ioana Alexandra

Publication type:

Article

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

Challenges of Preimplantation Genetic Counselling in the Context of Cystic Fibrosis and Other CFTR-Related Disorders: A Monocentric Experience in a Cohort of 92 Couples.

Published in:

Genes, 2024, v. 15, n. 7, p. 937, doi. 10.3390/genes15070937

By:

Sorrentino, Ugo;
Menegazzo, Massimo;
Gabbiato, Ilaria;
Calosci, Davide;
Zambon, Carlo Federico;
Zuccarello, Daniela

Publication type:

Article

Cystic Fibrosis: Using genetic association to identify modifiers of disease variability in cystic fibrosis.

Published in:

European Journal of Human Genetics, 2006, v. 14, n. 8, p. 890, doi. 10.1038/sj.ejhg.5201656

By:

Cutting, Garry R.

Publication type:

Article

Diagnóstico genético pré-implantacional na fibrose cística: relato de caso.

Published in:

Einstein (16794508), 2015, v. 13, n. 1, p. 110, doi. 10.1590/S1679-45082015RC2738

By:

Santoro Biazotti, Maria Cristina;
Pinto Junior, Walter;
de Albuquerque, Maria Cecília Romano Maciel;
Shimabukuro Fujihara, Litsuko;
Haru Suganuma, Cláudia;
Bednar Reigota, Renata;
Bertuzzo, Carmen Sílvia

Publication type:

Article

Screening for liver disease in cystic fibrosis: analysis clinical and genetic risk factors for its development.

Published in:

Turkish Journal of Pediatrics, 2008, v. 50, n. 6, p. 526

By:

Fustik, Stojka;
Trajkovska, Meri;
Jakovska, Tanja;
Spirevska, Lidija;
Josifovska, Tanja;
Koceva, Svetlana

Publication type:

Article

Population-based genetic carrier screening for cystic fibrosis in Victoria.

Published in:

2014

By:

Archibald, Alison D.;
Massie, John;
Smith, Melanie J.;
Dalton, Deborah G.;
du Sail, Desirée;
Amor, David J.

Publication type:

Letter to the Editor

Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.

Published in:

Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1140034

By:

Nami, Amin Hosseini;
Kabiri, Mahboubeh;
Motlagh, Fatemeh Zafarghandi;
Shirzadeh, Tina;
Fakhari, Negar;
Karimi, Ali;
Bagherian, Hamideh;
Jamali, Mojdeh;
Younesikhah, Shahrzad;
Shadman, Sara;
Zeinali, Razie;
Zeinali, Sirous

Publication type:

Article

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis.

Published in:

Twin Research & Human Genetics, 2014, v. 17, n. 6, p. 578, doi. 10.1017/thg.2014.65

By:

Delatycki, Martin B.;
Burke, Jo;
Christie, Louise;
Collins, Felicity;
Gabbett, Michael;
George, Peter;
Haan, Eric;
Ioannou, Liane;
Martin, Nicole;
McKenzie, Fiona;
O’Leary, Peter;
Scoble-Williams, Nicole;
Turner, Gillian;
Massie, John

Publication type:

Article

Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

Published in:

PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0060448

By:

Amato, Felice;
Seia, Manuela;
Giordano, Sonia;
Elce, Ausilia;
Zarrilli, Federica;
Castaldo, Giuseppe;
Tomaiuolo, Rossella

Publication type:

Article

Histo-Blood Group Gene Polymorphisms as Potential Genetic Modifiers of Infection and Cystic Fibrosis Lung Disease Severity.

Published in:

PLoS ONE, 2009, v. 4, n. 1, p. 1, doi. 10.1371/journal.pone.0004270

By:

Taylor-Cousar, Jennifer L.;
Zariwala, Maimoona A.;
Burch, Lauranell H.;
Pace, Rhonda G.;
Drumm, Mitchell L.;
Calloway, Hollin;
Haiying Fan;
Weston, Brent W.;
Wright, Fred A.;
Knowles, Michael R.

Publication type:

Article

Genome-wide association study of signature genetic alterations among pseudomonas aeruginosa cystic fibrosis isolates.

Published in:

PLoS Pathogens, 2021, v. 17, n. 6, p. 1, doi. 10.1371/journal.ppat.1009681

By:

Hwang, Wontae;
Yong, Ji Hyun;
Min, Kyung Bae;
Lee, Kang-Mu;
Pascoe, Ben;
Sheppard, Samuel K;
Yoon, Sang Sun

Publication type:

Article

Human Molecular Genetics and the long road to treating cystic fibrosis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 20, p. R264, doi. 10.1093/hmg/ddab191

By:

Harris, Ann

Publication type:

Article

Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience.

Published in:

Clinical Genetics, 2015, v. 87, n. 2, p. 124, doi. 10.1111/cge.12411

By:

Girardet, A.;
Ishmukhametova, A.;
Willems, M.;
Coubes, C.;
Hamamah, S.;
Anahory, T.;
Des Georges, M.;
Claustres, M.

Publication type:

Article

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements.

Published in:

2007

By:

Girardet, A.;
Guittard, C.;
Altieri, J.-P.;
Templin, C.;
Stremler, N.;
Beroud, C.;
des Georges, M.;
Claustres, M.

Publication type:

Letter

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.

Published in:

Clinical Genetics, 2007, v. 72, n. 1, p. 39, doi. 10.1111/j.1399-0004.2007.00825.x

By:

Narzi, L.;
Ferraguti, G.;
Stamato, A.;
Narzi, F.;
Valentini, S. B.;
Lelli, A.;
Delaroche, I.;
Lucarelli, M.;
Strom, R.;
Quattrucci, S.

Publication type:

Article

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

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2005, v. 14, n. 1, p. 1

By:

Elinor Langfelder-Schwind;
Edward Kloza;
Elaine Sugarman;
Barbara Pettersen;
Trisha Brown;
Kim Jensen;
Seth Marcus;
Joy Redman

Publication type:

Article

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Published in:

2022

By:

Ni, Qi;
Chen, Xiang;
Zhang, Ping;
Yang, Lin;
Lu, Yulan;
Xiao, Feifan;
Wu, Bingbing;
Wang, Huijun;
Zhou, Wenhao;
Dong, Xinran

Publication type:

journal article

Genetic counselling and antenatal diagnosis of cystic fibrosis.

Published in:

Journal of the Royal Society of Medicine (Supplement), 1987, v. 80, n. 15, p. 13

By:

Super, Maurice

Publication type:

Article

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

Genetics and genetic diagnosis. Congenital bilateral absence of the vas deferens, cystic fibrosis mutation analysis and intracytoplasmic sperm injection.

Published in:

Human Reproduction, 2000, v. 15, n. 2, p. 431, doi. 10.1093/humrep/15.2.431

By:

Phillipson, G.T.M.;
Petrucco, O.M.;
Matthews, C.D.

Publication type:

Article

FIBROSE CÍSTICA: ASPECTOS GENÉTICOS, CLÍNICOS E DIAGNÓSTICOS.

Published in:

Brazilian Journal of Surgery & Clinical Research, 2015, v. 11, n. 4, p. 30

By:

PESSOA, INGRID LACERDA;
SARMENTO-GUERRA, FELIPE QUEIROGA;
DE MENEZES, CAMILLA PINHEIRO;
GONÇALVES, GREGÓRIO FERNANDES

Publication type:

Article

Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis.

Published in:

Molecular Human Reproduction, 2000, v. 6, n. 5, p. 391, doi. 10.1093/molehr/6.5.391

By:

Dreesen, J.C.F.M.

Publication type:

Article

Genetic Data on Cystic Fibrosis (Mucoviscidosis).

Published in:: 1972
Publication type:: Abstract

The GIWU-CF study: exploring genetic modifiers in cystic fibrosis.

Published in:

Biopolymers & Cell, 2024, v. 40, n. 3, p. 203, doi. 10.7124/bc.000AF8

By:

Tyshchenko, O.;
Sharhorodska, Y.;
Bober, L.;
Tyrkus, M.;
Shmeliov, A.;
Okul, T.;
Vashchuk, O.;
Matiytsiv, N.;
Prokopenko, I.;
Makukh, H.

Publication type:

Article

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

Understanding genetic disease in a socio-historical context: a case study of cystic fibrosis.

Published in:

2005

By:

Kerr A

Publication type:

Journal Article

Giving up on geneticization: a comment on Hedgecoe's ‘Expansion and uncertainty: cystic fibrosis, classification and genetics’.

Published in:

Sociology of Health & Illness, 2004, v. 26, n. 1, p. 102, doi. 10.1111/j.1467-9566.2004.00380.x

By:

Kerr, Anne

Publication type:

Article

Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

Published in:

Clinical Respiratory Journal, 2018, v. 12, n. 3, p. 1197, doi. 10.1111/crj.12651

By:

Tothova Tarova, Eva;
Ficek, Andrej;
Baldovic, Marian;
Soltysova, Andrea;
Kadasi, Ludevit;
Polakova, Helena;
Kayserova, Hana

Publication type:

Article

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.

Published in:

Australian Journal of Primary Health, 2022, v. 28, n. 6, p. 580, doi. 10.1071/PY21247

By:

Leibowitz, Ruth;
Lewis, Sharon;
Emery, Jon;
Massie, John;
Smith, Melanie;
Delatycki, Martin;
Archibald, Alison

Publication type:

Article

Identification of the Cystic Fibrosis Gene: Genetic Analysis.

Published in:: 1990
Publication type:: Abstract

Duplex, triplex and quadruplex PCR for the preimplantation genetic diagnosis (PGD) of cystic fibrosis (CF), an exhaustive approach.

Published in:

Prenatal Diagnosis, 2004, v. 24, n. 7, p. 562, doi. 10.1002/pd.924

By:

Moutou, Céline;
Gardes, Nathalie;
Viville, Stéphane

Publication type:

Article

Cost-effective one-step PCR amplification of cystic fibrosis Δ F508 fragment in a single cell for preimplantation genetic diagnosis.

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 11, p. 1048, doi. 10.1002/(SICI)1097-0223(199911)19:11<1048::AID-PD703>3.0.CO;2-5

By:

Tsai, Yu Hui

Publication type:

Article

Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen‐positive diagnostic resolution process.

Published in:

Journal of Genetic Counseling, 2019, v. 28, n. 6, p. 1178, doi. 10.1002/jgc4.1170

By:

Langfelder‐Schwind, Elinor;
Raraigh, Karen S.;
Parad, Richard B.

Publication type:

Article

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors.

Published in:

Journal of Genetic Counseling, 2014, v. 23, n. 1, p. 5, doi. 10.1007/s10897-013-9636-9

By:

Langfelder-Schwind, Elinor;
Karczeski, Barbara;
Strecker, Michelle;
Redman, Joy;
Sugarman, Elaine;
Zaleski, Christina;
Brown, Trisha;
Keiles, Steven;
Powers, Amy;
Ghate, Sumheda;
Darrah, Rebecca

Publication type:

Article