Works matching DE "FANCONI'S anemia"

Results: 1062

Análisis longitudinal de la respuesta hematológica al tratamiento con andrógenos en pacientes que participan el Registro de Anemia de Fanconi de México.

Published in:

Acta Pediatrica de Mexico, 2025, v. 46, p. S55

By:

García-deTeresa, Benilde;
Contreras-Reyna, Noemi;
Fiesco-Roa, Moisés Ó.;
Monsiváis, Angélica;
Tavera, Gabriela;
Ortíz, Magdalena;
Apodaca, Elia;
Sánchez, Silvia;
Molina, Bertha;
Torres, Leda;
Juárez, Ulises;
López, Norma;
Frías, Sara

Publication type:

Article

Anesthesia and Fanconi anemia: a case report and review of literature.

Published in:

Pediatric Anesthesia, 2006, v. 16, n. 9, p. 981, doi. 10.1111/j.1460-9592.2006.01885.x

By:

Jacob, Rebecca;
Venkatesan, Thiruvenkatarajan

Publication type:

Article

The RSF1 Histone-Remodelling Factor Facilitates DNA Double-Strand Break Repair by Recruiting Centromeric and Fanconi Anaemia Proteins.

Published in:

PLoS Biology, 2014, v. 12, n. 5, p. 1, doi. 10.1371/journal.pbio.1001856

By:

Pessina, Fabio;
Lowndes, Noel F.

Publication type:

Article

Genetic factors underlying insomnia and ovarian insufficiency.

Published in:

Climacteric, 2023, v. 26, n. 5, p. 510, doi. 10.1080/13697137.2023.2205580

By:

Moysés-Oliveira, M.;
Scaff, A. M. C.;
Adami, L. N. G.;
Hachul, H.;
Andersen, M. L.;
Tufik, S.

Publication type:

Article

Malignant Transformation of Liver Adenoma: An Analysis of the Literature.

Published in:

Digestive Surgery, 2010, v. 27, n. 1, p. 32, doi. 10.1159/000268405

By:

Farges, Olivier;
Dokmak, Safi

Publication type:

Article

Dental management of Fanconi anemia: a rare congenital disorder.

Published in:

Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00050-1

By:

Dias, Jacqueline Jacinta;
Gupta, Ankit;
Shreehari, A. K.

Publication type:

Article

A Rare Case of Pancytopenia.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2023, v. 16, n. 2, p. 281, doi. 10.4103/mjdrdypu.mjdrdypu_973_21

By:

Edara, Manaswini;
Bhatt, Varsha;
Kanitkar, Shubhangi A.;
Patel, Aditi

Publication type:

Article

Retinopathy in a patient with Fanconi anemia and vitamin B12 deficiency.

Published in:

2012

By:

Chen, M-S;
Chang, K-P;
Lin, K-H;
Tsai, C-L;
Ho, T-C

Publication type:

Letter

An unusual ocular manifestation in fanconi anaemia: anterior ischaemic syndrome.

Published in:

2007

By:

Jain, V.;
Shome, D.;
Maiti, A.;
Natarajan, S.

Publication type:

Case Study

Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X) in patients with Fanconi anemia in Pakistan.

Published in:

Turkish Journal of Medical Sciences, 2017, v. 47, n. 2, p. 391, doi. 10.3906/sag-1506-53

By:

AFTAB, Iram;
IRAM, Saima;
KHALIQ, Saba;
ISRAR, Muhammad;
ALI, Nadir;
JAHAN, Shah;
HUSSAIN, Shabbir;
KHALIQ, Shagufta;
MOHSIN, Shahida

Publication type:

Article

How calm should I keep? Café-au-lait macules as potential manifestations of cancer susceptibility syndromes.

Published in:

Oncolog-Hematolog, 2023, n. 64, p. 33

By:

Cismaru, Andrei;
Berindan-Neagoe, Ioana

Publication type:

Article

Brca1 mutations in the coiled-coil domain impede Rad51 loading on DNA and mouse development.

Published in:

Molecular & Cellular Oncology, 2020, v. 7, n. 5, p. 1, doi. 10.1080/23723556.2020.1786345

By:

Krais, J. J.;
Johnson, N.

Publication type:

Article

Stitching up broken DNA ends by FANCA.

Published in:

Molecular & Cellular Oncology, 2018, v. 5, n. 6, p. 1, doi. 10.1080/23723556.2018.1518101

By:

Palovcak, Anna;
Liu, Wenjun;
Yuan, Fenghua;
Zhang, Yanbin

Publication type:

Article

A 3.5 year-old Boy with FTT and Skin Lesions.

Published in:

Journal of Pediatric Nephrology, 2016, v. 4, n. 1, p. 49

By:

Dehgan, Marzieh;
Hooman, Nakysa

Publication type:

Article

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693

By:

Thompson, Ashley S.;
Saba, Nusrat;
McReynolds, Lisa J.;
Munir, Saeeda;
Ahmed, Parvez;
Sajjad, Sumaira;
Jones, Kristine;
Yeager, Meredith;
Donovan, Frank X.;
Chandrasekharappa, Settara C.;
Alter, Blanche P.;
Savage, Sharon A.;
Rehman, Sadia

Publication type:

Article

FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1532

By:

Cannon‐Albright, Lisa A.;
Teerlink, Craig C.;
Stevens, Jeffrey;
Snow, Angela K.;
Thompson, Bryony A.;
Bell, Russell;
Nguyen, Kim N.;
Sargent, Nykole R.;
Kohlmann, Wendy K.;
Neklason, Deborah W.;
Tavtigian, Sean V.

Publication type:

Article

Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1351

By:

Dillon, Bronwyn;
Feben, Candice;
Segal, David;
Plessis, Johannes;
Reynders, David;
Wainwright, Rosalind;
Poole, Janet;
Krause, Amanda

Publication type:

Article

Preliminary study on the function of the POLD1 (CDC2) EXON2 c.56G>A mutation.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1280

By:

Liu, Jing;
Liu, Yu;
Fu, Jingxuan;
Liu, Chengeng;
Yang, Tingting;
Zhang, Xiaomin;
Cao, Min;
Wang, Peichang

Publication type:

Article

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.863

By:

Keupp, Katharina;
Hampp, Stephanie;
Hübbel, Annette;
Maringa, Monika;
Kostezka, Sarah;
Rhiem, Kerstin;
Waha, Anke;
Wappenschmidt, Barbara;
Pujol, Roser;
Surrallés, Jordi;
Schmutzler, Rita K.;
Wiesmüller, Lisa;
Hahnen, Eric

Publication type:

Article

Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.694

By:

Ben Haj Ali, Abir;
Amouri, Ahlem;
Sayeb, Marwa;
Makni, Saloua;
Hammami, Wajih;
Naouali, Chokri;
Dallali, Hamza;
Romdhane, Lilia;
Bashamboo, Anu;
McElreavey, Kenneth;
Abdelhak, Sonia;
Messaoud, Olfa

Publication type:

Article

FANCC Dutch founder mutation in a Mennonite family from Tamaulipas, México.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.710

By:

García‐de Teresa, Benilde;
Frias, Sara;
Molina, Bertha;
Villarreal, María Teresa;
Rodriguez, Alfredo;
Carnevale, Alessandra;
López‐Hernández, Gerardo;
Vollbrechtshausen, Lilia;
Olaya‐Vargas, Alberto;
Torres, Leda

Publication type:

Article

Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1199, doi. 10.1002/mgg3.502

By:

Velmurugan, Karthik Raja;
Michalak, Pawel;
Kang, Lin;
Fonville, Natalie C.;
Garner, Harold R.

Publication type:

Article

Somatic mosaicism of an intragenic <italic>FANCB</italic> duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 1, p. 77, doi. 10.1002/mgg3.350

By:

Asur, Rajalakshmi S.;
Kimble, Danielle C.;
Lach, Francis P.;
Jung, Moonjung;
Donovan, Frank X.;
Kamat, Aparna;
Noonan, Raymond J.;
Thomas, James W.;
Park, Morgan;
Chines, Peter;
Vlachos, Adrianna;
Auerbach, Arleen D.;
Smogorzewska, Agata;
Chandrasekharappa, Settara C.

Publication type:

Article

A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.

Published in:

Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 360, doi. 10.1002/mgg3.293

By:

Pilonetto, Daniela V.;
Pereira, Noemi F.;
Bonfim, Carmem M. S.;
Ribeiro, Lisandro L.;
Bitencourt, Marco A.;
Kerkhoven, Lianne;
Floor, Karijn;
Ameziane, Najim;
Joenje, Hans;
Gille, Johan J. P.;
Pasquini, Ricardo

Publication type:

Article

Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology.

Published in:

Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 6, p. 500, doi. 10.1002/mgg3.160

By:

Nicchia, Elena;
Greco, Chiara;
De Rocco, Daniela;
Pecile, Vanna;
D'Eustacchio, Angela;
Cappelli, Enrico;
Corti, Paola;
Marra, Nicoletta;
Ramenghi, Ugo;
Pillon, Marta;
Farruggia, Piero;
Dufour, Carlo;
Pallavicini, Alberto;
Torelli, Lucio;
Savoia, Anna

Publication type:

Article

A photo‐distributed rash and eczematous eruptions in two siblings—A diagnostic conundrum.

Published in:

Australasian Journal of Dermatology, 2024, v. 65, n. 4, p. 402, doi. 10.1111/ajd.14295

By:

Malhi, Kittu;
Mustari, Akash;
Singh, Sukhdeep;
Kumar, Anoop;
Vignesh, Pandiarajan;
De, Dipankar;
Handa, Sanjeev;
Mahajan, Rahul

Publication type:

Article

Recurrent aphthous ulcers in Fanconi's anaemia: a case report.

Published in:

International Journal of Paediatric Dentistry, 2004, v. 14, n. 3, p. 214, doi. 10.1111/j.1365-263X.2004.00549.x

By:

Otan, Feyza;
Açikgöz, Gokhan;
Sakallioǧlu, Umur;
Özkan, Burcu

Publication type:

Article

Natural Killer Cell Degranulation Defect: A Cause for Impaired NK-Cell Cytotoxicity and Hyperinflammation in Fanconi Anemia Patients.

Published in:

Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00490

By:

Shabrish, Snehal;
Kelkar, Madhura;
Chavan, Niranjan;
Desai, Mukesh;
Bargir, Umair;
Gupta, Maya;
Mehta, Priti;
Chichra, Akanksha;
S, Chandrakala;
Taur, Prasad;
Saxena, Vinay;
Vundinti, Babu Rao;
Madkaikar, Manisha

Publication type:

Article

K63-linked ubiquitination of FANCG is required for its association with the Rap80-BRCA1 complex to modulate homologous recombination repair of DNA interstand crosslinks.

Published in:

Oncogene, 2015, v. 34, n. 22, p. 2867, doi. 10.1038/onc.2014.229

By:

Zhu, B;
Yan, K;
Li, L;
Lin, M;
Zhang, S;
He, Q;
Zheng, D;
Yang, H;
Shao, G

Publication type:

Article

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

Published in:

Oncogene, 2014, v. 33, n. 40, p. 4803, doi. 10.1038/onc.2013.421

By:

Park, J-Y;
Singh, T R;
Nassar, N;
Zhang, F;
Freund, M;
Hanenberg, H;
Meetei, A R;
Andreassen, P R

Publication type:

Article

Telomere shortening in Fanconi anaemia demonstrated by a direct FISH approach.

Published in:

Cytogenetics & Cell Genetics, 2001, v. 93, n. 3/4, p. 203, doi. 10.1159/000056985

By:

Hanson, H.;
Mathew, C.G.;
Docherty, Z.;
Ogilvie, C. Mackie

Publication type:

Article

Kidney complications in 107 Fanconi anemia patients submitted to hematopoietic cell transplantation.

Published in:

European Journal of Pediatrics, 2022, v. 181, n. 2, p. 715, doi. 10.1007/s00431-021-04263-0

By:

da Cunha, Mariana Munhoz;
Barreto, Fellype Carvalho;
Nichele, Samantha;
Trennepohl, Joanna;
Ribeiro, Lisandro;
Loth, Gisele;
Koliski, Adriana;
de Almeida Pinto Jardim, Tyane;
Mello, Adriana;
Pasquini, Ricardo;
de Castro Sylvestre, Lucimary;
Bonfim, Carmem

Publication type:

Article

Fanconi's Anemia: Clues to Early Recognition.

Published in:

Clinical Pediatrics, 1972, v. 11, n. 1, p. 20, doi. 10.1177/000992287201100108

By:

Pochedly, Carl

Publication type:

Article

What Kind of Anemia?

Published in:

Clinical Pediatrics, 1970, v. 9, n. 11, p. 688, doi. 10.1177/000992287000901120

By:

McMillan, Campbell W.;
Ziai, Mohsen

Publication type:

Article

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIC PURPURA.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 3, p. 143, doi. 10.1177/000992286600500303

By:

Eisenstein, Elliot M.

Publication type:

Article

Nevus Comedonicus Syndrome.

Published in:

2024

By:

Sahu, Deepak Kumar;
Rout, Arpita Nibedita;
Sirka, Chandra Sekhar;
Semy, Victor

Publication type:

Case Study

Age-specific oncogenic pathways in head and neck squamous cell carcinoma - are elderly a different subcategory?

Published in:

Cellular Oncology (2211-3428), 2022, v. 45, n. 1, p. 1, doi. 10.1007/s13402-021-00655-4

By:

van der Kamp, Martine Froukje;
Halmos, Gyorgy Bela;
Guryev, Victor;
Horvatovich, Peter Laszlo;
Schuuring, Ed;
van der Laan, Bernardus Franciscus Augustinus Maria;
van der Vegt, Bert;
Plaat, Boudewijn Evert Christiaan;
Verhoeven, Cornelia Johanna

Publication type:

Article

Towards a Molecular Understanding of the Fanconi Anemia Core Complex.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/926787

By:

Hodson, Charlotte;
Walden, Helen

Publication type:

Article

A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/865170

By:

de Vries, Yne;
Lwiwski, Nikki;
Levitus, Marieke;
Kuyt, Bertus;
Israels, Sara J.;
Arwert, Fré;
Zwaan, Michel;
Greenberg, Cheryl R.;
Alter, Blanche P.;
Joenjeq, Hans;
Meijers-Heijboer, Hanne

Publication type:

Article

Loss of Ercc1 Results in a Time- and Dose-Dependent Reduction of Proliferating Early Hematopoietic Progenitors.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/783068

By:

Verhagen-Oldenampsen, Judith H. E.;
Haanstra, Jurgen R.;
Van Strien, Paulina M. H.;
Valkhof, Marijke;
Touw, Ivo P.;
Von Lindern, Marieke

Publication type:

Article

A Molecular, Genetic, and Diagnostic Spotlight on Fanconi Anemia.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/650730

By:

Hays, Laura E.;
Meyer, Stefan;
Van de Vrugt, Henri J.

Publication type:

Article

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/603253

By:

Gille, Johan J. P.;
Floor, Karijn;
Kerkhoven, Lianne;
Ameziane, Najim;
Joenje, Hans;
DeWinter, Johan P.

Publication type:

Article

Targeting the Fanconi Anemia Pathway to Identify Tailored Anticancer Therapeutics.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/481583

By:

Jenkins, Chelsea;
Kan, Jenny;
Hoatlin, Maureen E.

Publication type:

Article

Fanconi Anemia Proteins and Their Interacting Partners: AMolecular Puzzle.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/425814

By:

Kaddar, Tagrid;
Carreau, Madeleine

Publication type:

Article

Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/349837

By:

Meyer, Stefan;
Neitzel, Heidemarie;
Tonnies, Holger

Publication type:

Article

A DOG's View of Fanconi Anemia: Insights from C. elegans.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/323721

By:

Jones, Martin;
Rose, Ann

Publication type:

Article

Disrupted Signaling through the Fanconi Anemia Pathway Leads to Dysfunctional Hematopoietic Stem Cell Biology: Underlying Mechanisms and Potential Therapeutic Strategies.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/265790

By:

Geiselhart, Anja;
Lier, Amelie;
Walter, Dagmar;
Milsom, Michael D.

Publication type:

Article

Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/238731

By:

Oostra, Anneke B.;
Nieuwint, Aggie W. M.;
Joenje, Hans;
De Winter, Johan P.

Publication type:

Article

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing.

Published in:

Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/132856

By:

Ameziane, Najim;
Sie, Daoud;
Dentro, Stefan;
Ariyurek, Yavuz;
Kerkhoven, Lianne;
Joenje, Hans;
Dorsman, Josephine C.;
Ylstra, Bauke;
Gille, Johan J. P.;
Sistermans, Erik A.;
De Winter, Johan P.

Publication type:

Article

Correction of Fanconi Anemia Group C Hematopoietic Stem Cells Following Intrafemoral Gene Transfer.

Published in:

Anemia (20901267), 2010, p. 1, doi. 10.1155/2010/947816

By:

Habi, Ouassila;
Girard, Johanne;
Bourdages, Valérie;
Delisle, Marie-Chantal;
Carreau, Madeleine

Publication type:

Article