Works matching DE "GENETIC counseling"

Results: 5000

Management of congenital ichthyoses: guidelines of care: Part one: 2024 update Free.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 16, doi. 10.1093/bjd/ljaf076

By:

Mazereeuw-Hautier, Juliette;
Paller, Amy S;
Dreyfus, Isabelle;
Sprecher, Eli;
O'Toole, Edel;
Bodemer, Christine;
Akiyama, Masashi;
Diociaiuti, Andrea;
Hachem, Maya El;
Fischer, Judith;
Gonzalez-Sarmiento, Rogelio;
Gutiérrez-Cerrajero, Carlos;
Ott, Hagen;
Has, Cristina;
Jonca, Nathalie;
Tournier, Céline Granier;
Milesi, Sarah;
Texier, Hélène;
Martinez, Ana;
Traupe, Heiko

Publication type:

Article

FGFR2 variants in Schimmelpenning–Feuerstein–Mims syndrome.

Published in:

British Journal of Dermatology, 2025, v. 193, n. 1, p. 167, doi. 10.1093/bjd/ljaf025

By:

Wang, Yixin;
Zhao, Lingyun;
Chen, Yuling;
Pan, Lingyu;
Huang, Nan;
Zhou, Runke;
Li, Li

Publication type:

Article

Genetic Counseling for Breast Cancer Risk: General Concepts, Challenging Themes and Future Directions.

Published in:

Breast Disease, 2007, v. 27, n. 1, p. 69

By:

Peshkin, Beth N.;
Brown, Karen L.;
Moglia, Diana M.;
Grumet, Sherry

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 DIAGNÓSTICA PRÉ-NATAL DA AGENESIA RENAL BILATERAL: AVANÇOS TECNOLÓGICOS E IMPACTOS NO ACONSELHAMENTO GENÉTICO.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 5, p. 1, doi. 10.54751/revistafoco.v18n5-168

By:

Fernandes da Silva, Ingrid;
Marinho dos Santos, Viviane

Publication type:

Article

Kidney transplant in patients with C3 glomerulopathy Open Access.

Published in:

Clinical Kidney Journal, 2025, v. 18, n. 5, p. 1, doi. 10.1093/ckj/sfaf134

By:

Attieh, Rose Mary;
Bharati, Joyita;
Sharma, Purva;
Nair, Gayatri;
Ayehu, Gashu;
Jhaveri, Kenar D

Publication type:

Article

Genetics Corner: Minireview: Fractures in the Extremely Premature infant: Distinguishing Metabolic Bone Disease of Prematurity versus Osteogenesis Imperfecta.

Published in:

Neonatology Today, 2025, v. 20, n. 5, p. 181

By:

Hua Wang

Publication type:

Article

A Mosaic PHEX Variant in Hypophosphatemic Rickets: Distinguishing Postzygotic Mutation from Sex Chromosome Aneuploidy.

Published in:

2025

By:

Lim, Wu Tzen;
Nenke, Marni;
Rawlings, Lesley;
Wells, Amanda;
Vakulin, Cassandra;
Waters, Wendy;
De Sousa, Sunita

Publication type:

Case Study

Splenectomy in Pregnant Patient with Sickle Beta-Thalassemia.

Published in:

Journal of Applied Hematology, 2025, v. 16, n. 2, p. 181, doi. 10.4103/joah.joah_12_25

By:

Al-Marzouki, Adel F.;
Zahim, Ayman;
Alhazmi, Lenah;
Almughamisi, Shahad Amro O.;
Aljiffry, Murad

Publication type:

Article

The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-025-10724-8

By:

Li, Youqiong;
Zhou, Tianjie;
Ye, Lihua;
Liang, Liang;
Cheng, Shufu;
Zheng, Lihong;
He, Xi;
Wan, Peixing;
Huang, Tongfeng

Publication type:

Article

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer‐Specific Polygenic Scores.

Published in:

Cancer Medicine, 2025, v. 14, n. 11, p. 1, doi. 10.1002/cam4.70990

By:

Prassas, Brendan;
Shi, Zhuqing;
Tran, Huy;
Wei, Jun;
Wang, Chi‐Hsiung;
Rifkin, Andrew S.;
Ashworth, Annabelle;
Zheng, S. Lilly;
Mulford, Ashley J.;
Sanders, Alan R.;
Pesce, Catherine E.;
Helfand, Brian T.;
Dunnenberger, Henry M.;
Duggan, David;
Hulick, Peter J.;
DePersia, Allison;
Xu, Jianfeng

Publication type:

Article

ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.

Published in:

QJM: An International Journal of Medicine, 2025, v. 118, n. 4, p. 264, doi. 10.1093/qjmed/hcaf006

By:

Huang, Yanlin;
Yu, Lihua;
Zhu, Juan;
Wang, Yunan;
Zhang, Rui;
Chen, Jianhong;
Huang, Cuiqing;
Li, Ling;
Ding, Hongke;
Lu, Jian;
Zhang, Yan;
Du, Li

Publication type:

Article

Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.

Published in:

Journal of Clinical Medicine, 2025, v. 14, n. 11, p. 3790, doi. 10.3390/jcm14113790

By:

DiStefano, Nicholas;
Cooper, Jaimee N.;
Elisha, David H.;
Zalta, Max;
Mittal, Jeenu;
Cohen, David;
Monterrubio, Andrea;
Hossain, Ryan;
Sangadi, Akhila;
Mittal, Rahul;
Eshraghi, Adrien A.

Publication type:

Article

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Published in:

Cancers, 2025, v. 17, n. 11, p. 1819, doi. 10.3390/cancers17111819

By:

Munch, Anne K.;
Feldner, Elisabeth S.;
Bækgaard, Caroline H.;
Larsen, Mie B.;
Slemming-Adamsen, Naja;
Boonen, Desirée S.;
Møller, Nanna B.;
Pedersen, Inge S.;
Hansen, Thomas V. O.;
Terkelsen, Thorkild;
Burton, Mark;
Hao, Qin;
Boonen, Susanne E.;
Thomassen, Mads

Publication type:

Article

Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.

Published in:

Diagnostics (2075-4418), 2025, v. 15, n. 11, p. 1375, doi. 10.3390/diagnostics15111375

By:

Doroftei, Bogdan;
Savuca, Alexandra;
Anton, Nicoleta;
Maftei, Radu;
Cretu, Ana-Maria;
Bivoleanu, Anca Roxana;
Doroftei, Mara;
Ilea, Ciprian

Publication type:

Article

ATR-X Syndrome mimicking Down syndrome: A diagnostic challenge with psychiatric implications.

Published in:

2025

By:

Patra, Sriparno;
Ghosh, Soumitra;
Saharia, Barasha

Publication type:

Letter to the Editor

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 600, doi. 10.1111/cge.14691

By:

Marques, João Pedro;
Soares, Célia Azevedo;
Carvalho, Ana Luísa;
Estrela‐Silva, Sérgio;
Santos, Luísa Coutinho;
Ramos, Lina;
Silva, Eduardo

Publication type:

Article

Recurrent schwannomatosis with mosaic SMARCB1 loss: A case report.

Published in:

Experimental & Therapeutic Medicine, 2025, v. 30, n. 1, p. N.PAG, doi. 10.3892/etm.2025.12897

By:

Lakhina, Yuliya;
Lim, Megan A.;
Yonk, Marybeth G.;
Campbell, Melissa;
Tora, Muhibullah S.;
Du, Yuhong;
Koshkin, Sergei;
Lei, Kecheng;
Boulis, Nicholas M.

Publication type:

Article

Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.

Published in:

2025

By:

Keramida, Christina;
Efstathiadou, Chrisoula;
Siomou, Elisavet;
Papageorgiou, Elena;
Pavlidou, Efterpi;
Sotiriou, Sotirios;
Charitou, Antonia;
Eleftheriades, Makarios;
Nikas, Georgios;
Anastasopoulos, Panagiotis;
Manolakos, Emmanouil;
Papoulidis, Ioannis

Publication type:

Case Study

Portuguese Public Attitudes Regarding Contact Between Healthcare Professionals and Patient's Relatives for Genetic Risk Disclosure: A Cross-Sectional Study.

Published in:

Acta Médica Portuguesa, 2025, v. 38, n. 6/7, p. 393, doi. 10.20344/amp.22204

By:

RIBEIRO, Iara;
TAVARES, João;
SOUSA, Liliana;
MENDES, Álvaro

Publication type:

Article

Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.

Published in:

BMC Gastroenterology, 2025, v. 25, n. 1, p. 1, doi. 10.1186/s12876-025-04041-4

By:

Liu, Haoying;
Shen, Yinxian;
Xu, Jiaxin;
Huang, Shangzhan;
Qin, TingTing;
Zhou, Qi;
Liao, Jiazhi;
Xiao, Fang

Publication type:

Article

Postnatal Outcomes of Fetal Variants of Unknown Significance in Prenatal Chromosomal Microarray Analysis: A Single-Center Study.

Published in:

Fetal Diagnosis & Therapy, 2025, v. 52, n. 3, p. 225, doi. 10.1159/000542147

By:

Yin, Lizhong;
Wang, Jing;
Zhang, Bin;
Wang, Wenli;
Yu, Bin

Publication type:

Article

Novel compound heterozygous mutation in DNAH9 causes complex congenital heart diseaseDNAH9 causes complex congenital heart disease.

Published in:

Molecular Medicine Reports, 2025, v. 32, n. 1, p. N.PAG, doi. 10.3892/mmr.2025.13563

By:

Liu, Xiao;
Zhou, Jing‑Lin;
Yang, Cheng-Ying;
Zhou, Hai-Yan;
He, Wen-Bin;
Yang, Jing

Publication type:

Article

Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.

Published in:

Brain: A Journal of Neurology, 2025, v. 148, n. 5, p. 1604, doi. 10.1093/brain/awae324

By:

Zheng, Yuxi;
Wang, Panfeng;
Li, Shiqiang;
Long, Yuxi;
Jiang, Yi;
Guo, Dongwei;
Jia, Xiaoyun;
Liu, Mengchu;
Zeng, Yiyan;
Xiao, Xueshan;
Hejtmancik, J Fielding;
Zhang, Qingjiong;
Sun, Wenmin

Publication type:

Article

Impact of A Multidisciplinary Team Discussion for Genetic Lung Fibrosis.

Published in:

Respirology, 2025, v. 30, n. 6, p. 523, doi. 10.1111/resp.70039

By:

Franco, Giovanni;
Ba, Ibrahima;
Nathan, Nadia;
Guerin, Cécile;
Lassus, Albane;
Kannengiesser, Caroline;
Froidure, Antoine;
Manali, Effrosyni;
Bunel, Vincent;
Bonniaud, Philippe;
Bouvry, Diane;
Debray, Marie Pierre;
Juge, Pierre Antoine;
Epaud, Ralph;
Louvrier, Camille;
Plessier, Aurélie;
de Fontbrune, Flore Sicre;
Wémeau‐Stervinou, Lidwine;
Adam, Sylvain Marchand;
Chabrol, Alexandre

Publication type:

Article

Genomics and Your Health - U.S. Centers for Disease Control and Prevention.

Published in:

Journal of Consumer Health on the Internet, 2025, v. 29, n. 2, p. 257, doi. 10.1080/15398285.2025.2494947

By:

Bihn, Clara

Publication type:

Article

Reproductive Injustice and Genetic Counseling in the Socialist Politics of Disability.

Published in:

Problems of Post-Communism, 2025, v. 72, n. 3, p. 216, doi. 10.1080/10758216.2024.2382754

By:

Shmidt, Victoria

Publication type:

Article

Clinical Molecular Immunohistochemistry Mismatch Repair Mutations in Lynch Syndrome in Patients Under 50 Years: A Systematic Review.

Published in:

Biomedicines, 2025, v. 13, n. 5, p. 1062, doi. 10.3390/biomedicines13051062

By:

Manta, Bogdan Adrian;
Ilie, Adrian Cosmin;
Marc, Felicia;
Nistor, Daciana;
Mazilu, Patricia Octavia;
Borza, Claudia

Publication type:

Article

Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03492-9

By:

Pantea, Cristina-Loredana;
Bataneant, Mihaela;
Zimbru, Cristian G.;
Dragulescu, Bogdan;
Munteanu, Catalin Vasile;
Chirita-Emandi, Adela

Publication type:

Article

Comprehensive review of male breast cancer: Understanding a rare condition.

Published in:

Oncology Research, 2025, v. 33, n. 6, p. 1289, doi. 10.32604/or.2025.058790

By:

JAMIL, ABDUR;
SIDDIQUE, RIMSHA;
ALTAF, FARYAL;
WARRAICH, DANIYAL;
AHMED, FAIZAN;
QURESHI, ZAHEER

Publication type:

Article

A Review of the Ocular Phenotype and Correlation with Genotype in Poretti–Boltshauser Syndrome.

Published in:

Medicina (1010660X), 2025, v. 61, n. 5, p. 881, doi. 10.3390/medicina61050881

By:

Moon, Won Young;
Shah, Sanil;
ElMeshad, Nervine;
De Silva, Samantha R.

Publication type:

Article

A 12‐Year‐Old Female With Facial Bumps, Body Pits, and Coiled Scalp Hair.

Published in:

Pediatric Dermatology, 2025, v. 42, n. 3, p. 646, doi. 10.1111/pde.15769

By:

Varala, Sirisha;
Kapilavayi, Sravani;
Challa, Surekha;
Rajagopal, Rubika;
Ananthula, Venkata Krishna

Publication type:

Article

Clinicopathological Characteristics of Ovarian and Breast Cancer in PALB2 , RAD51C, and RAD51D Germline Pathogenic Variant Carriers.

Published in:

Genes, 2025, v. 16, n. 5, p. 556, doi. 10.3390/genes16050556

By:

Spijkervet, Jella-Rike J. A. H.;
Lanjouw, L.;
Berger, L. P. V.;
Dorrius, M. D.;
van der Vegt, B.;
de Bock, G. H.

Publication type:

Article

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Published in:

Genes, 2025, v. 16, n. 5, p. 535, doi. 10.3390/genes16050535

By:

Zawadzki, Jan;
Grenda, Ryszard;
Madej-Pilarczyk, Agnieszka;
Ciara, Elżbieta

Publication type:

Article

Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251342637

By:

Aamir, Muhammad;
Faizullah, Fahad;
Khan, Malik W. Z.;
Azeem, Touba;
Khan, Muhammad Awais

Publication type:

Article

Hemoglobin Disorders Associated with Neurological Impairment: First Report of ATR-X Syndrome and Recessive Congenital Methemoglobinemia Type II in Tunisia.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4803, doi. 10.3390/ijms26104803

By:

Ouragini, Houyem;
Bouatrous, Emna;
Kasdallah, Manel;
Nouira, Sonia;
Dallali, Hamza;
Rekaya, Samia;
Chaouachi, Dorra;
Ouederni, Monia;
Menif, Samia

Publication type:

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

Reproductive behaviour of mothers of children with beta-thalassaemia major.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 3, p. 246, doi. 10.26719/2012.18.3.246

By:

Habibzadeh, F.;
Yadollahie, M.;
Roshanipoor, M.;
Haghshenas, M.

Publication type:

Article

Outcome and management of pregnancy in women with thalassaemia in Cyprus.

Published in:

2008

By:

Toumba M;
Kanaris C;
Simamonian K;
Skordis N

Publication type:

Journal Article

KNOWLEDGE, ATTITUDE AND PRACTICE OF PRE-MARITAL GENETIC COUNSELLING AND TESTING OF SICKLE CELL DISEASE AMONG WOMEN IN ZARIA, NIGERIA.

Published in:

West African Journal of Nursing, 2014, v. 25, n. 2, p. 1

By:

Sani, Abdurrahman Muhammad;
Suleiman, Farida

Publication type:

Article

Genetic Testing in Gastrointestinal Cancers: A Case-Based Approach.

Published in:

Oncology (08909091), 2012, v. 26, n. 5, p. 433

By:

SCHRADER, KASMINTAN;
OFFIT, KENNETH;
STADLER, ZSOFIA K.

Publication type:

Article

ASCO Breast: Management of Breast Cancer in Young Patients Involves Complicated Surgical, Genetic, and Fertility Issues.

Published in:

2011

By:

Levitan, Dave

Publication type:

Conference Paper/Materials

The Taylor/Mutch Article Reviewed.

Published in:

Oncology (08909091), 2006, v. 20, n. 1, p. 96

By:

Kohlmann, Wendy

Publication type:

Article

Prenatal ultrasonographic manifestations of partial trisomy 12q(12q24.2→qter) and partial monosomy 2q (2q37.3→qter).

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2020, v. 77, n. 7, p. 754, doi. 10.2298/VSP170316136J

By:

Joksić, Ivana;
Liehr, Thomas;
Toljić, Mina;
Karadzov-Orlić, Nataša;
Milovanović, Zagorka;
Miković, Željko;
Egić, Amira

Publication type:

Article

Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer.

Published in:

2019

By:

Müller, Dirk;
Danner, Marion;
Schmutzler, Rita;
Engel, Christoph;
Wassermann, Kirsten;
Stollenwerk, Björn;
Stock, Stephanie;
Rhiem, Kerstin

Publication type:

journal article

A Review of Surgical Perspectives of Breast Cancer Genetics and Risk-Reducing Surgery.

Published in:

Indian Journal of Surgery, 2022, v. 84, p. 605, doi. 10.1007/s12262-021-03119-z

By:

Deo, S. V. S.;
Chhebbi, Madiwalesh;
Mishra, Ashutosh;
Sharma, Jyoti;
Gogia, Ajay;
Pramanik, Raja

Publication type:

Article

Genetic Predisposition to Breast Cancer and Its Management.

Published in:

2021

By:

Srivastava, Anurag;
Jatoi, Ismail

Publication type:

Editorial

Synchronous Breast Cancer and Gallbladder Diseases-A Chromosomal Analysis: A Pilot Study at a Tertiary Care Centre.

Published in:

Indian Journal of Surgery, 2017, v. 79, n. 6, p. 544, doi. 10.1007/s12262-016-1524-8

By:

Chaudhary, Devendra;
Ahluwalia, Rahul;
Rai, Arvind

Publication type:

Article

"Strokes" in MELAS are Actually Stroke-like Episodes Due To Metabolic Pathophysiology.

Published in:

2024

By:

Finsterer, Josef

Publication type:

Letter