1 |
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
56
6
61
|
McCauley J...Holden ST
|
21910217 |
2011 |
2 |
Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome.
61
56
6
|
Holden ST...Woods CG
|
16679491 |
2006 |
3 |
X-linked inheritance of Fanconi anemia complementation group B.
61
6
56
|
Meetei AR...Joenje H
|
15502827 |
2004 |
4 |
VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance.
6
56
|
Wang H...Thompson D
|
8368240 |
1993 |
5 |
Fanconi Anemia
61
6
|
Mehta PA...Tolar J
|
20301575 |
2002 |
6 |
Fanconi anemia: at the crossroads of DNA repair.
56
|
Deakyne JS...Mazin AV
|
21568838 |
2011 |
7 |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
6
|
ACOG Committee on Genetics
|
19888064 |
2009 |
8 |
Esophageal Atresia / Tracheoesophageal Fistula Overview
6
|
Scott DA
|
20301753 |
2009 |
9 |
Carrier screening in individuals of Ashkenazi Jewish descent.
6
|
Gross SJ...Professional Practice and Guidelines Committee
|
18197057 |
2008 |
10 |
Biallelic inactivation of BRCA2 in Fanconi anemia.
56
|
Howlett NG...D'Andrea AD
|
12065746 |
2002 |
11 |
Partial complementation of the Fanconi anemia defect upon transfection by heterologous DNA. Phenotypic dissociation of chromosomal and cellular hypersensitivity to DNA cross-linking agents.
56
|
Diatloff-Zito C...Moustacchi E
|
2265827 |
1990 |
12 |
VACTERL with hydrocephalus: further delineation of the syndrome(s)
56
|
Evans JA...Hunter AG
|
2816994 |
1989 |
13 |
Fanconi's anaemia: correlation of genetic complementation group with psoralen/UVA response.
56
|
Digweed M...Sperling K
|
3338794 |
1988 |
14 |
Two complementation groups of Fanconi's anemia differ in their phenotypic response to a DNA-crosslinking treatment.
56
|
Moustacchi E...Buchwald M
|
3804331 |
1987 |
15 |
Identification of two complementation groups in Fanconi anemia.
56
|
Duckworth-Rysiecki G...Buchwald M
|
3919452 |
1985 |
16 |
Genetic heterogeneity of Fanconi's anemia demonstrated by somatic cell hybrids.
56
|
Zakrzewski S...Sperling K
|
7203484 |
1980 |
17 |
Patients Resistant Against PSMA-Targeting α-Radiation Therapy Often Harbor Mutations in DNA Damage-Repair-Associated Genes.
61
|
Kratochwil C...Stenzinger A
|
31601699 |
2020 |
18 |
Association of clinical severity with FANCB variant type in Fanconi anemia.
61
|
Jung M...Chandrasekharappa SC
|
32106311 |
2020 |
19 |
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
61
|
Del Valle J...Lazaro C
|
32235514 |
2020 |
20 |
Transcriptome sequencing profiles of cervical cancer tissues and SiHa cells.
61
|
Chen T...Xie X
|
31456134 |
2020 |
21 |
Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.
61
|
Chirita-Emandi A...Puiu M
|
31937788 |
2020 |
22 |
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
61
|
Zhang R...Reutter H
|
32502225 |
2020 |
23 |
Structure of the Fanconi anaemia monoubiquitin ligase complex.
61
|
Shakeel S...Passmore LA
|
31666700 |
2019 |
24 |
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
61
|
Mori M...Takata M
|
30792206 |
2019 |
25 |
Genotype-phenotype associations in Fanconi anemia: A literature review.
61
|
Fiesco-Roa MO...Alter BP
|
31351673 |
2019 |
26 |
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
61
|
Brunelli L...Mao R
|
31192527 |
2019 |
27 |
Delineating the role of FANCA in glucose-stimulated insulin secretion in β cells through its protein interactome.
61
|
Lagundzin D...Woods NT
|
31461451 |
2019 |
28 |
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility.
61
|
Ramanagoudr-Bhojappa R...Chandrasekharappa SC
|
30540754 |
2018 |
29 |
X-linked VACTERL-H caused by deletion of exon 3 in FANCB: A case report.
61
|
Watanabe N...Nagase S
|
29232005 |
2018 |
30 |
FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange.
61
|
Benitez A...Zhang Y
|
30057198 |
2018 |
31 |
Genetic and Epigenetic Features of Rapidly Progressing IDH-Mutant Astrocytomas.
61
|
Richardson TE...Hatanpaa KJ
|
29741737 |
2018 |
32 |
Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.
61
|
Mason JA...Robertson JD
|
29490426 |
2018 |
33 |
Mutational and Functional Analysis of FANCB as a Candidate Gene for Sporadic Head and Neck Squamous Cell Carcinomas.
61
|
Glaas MF...Scheckenbach K
|
29491055 |
2018 |
34 |
Distinct homologous recombination gene expression profiles after neoadjuvant chemotherapy associated with clinical outcome in patients with ovarian cancer.
61
|
Kessous R...Gotlieb WH
|
29395310 |
2018 |
35 |
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
61
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Asur RS...Chandrasekharappa SC
|
29193904 |
2018 |
36 |
Molecular Portrait of Metastasis-Competent Circulating Tumor Cells in Colon Cancer Reveals the Crucial Role of Genes Regulating Energy Metabolism and DNA Repair.
61
|
Alix-Panabieres C...Assou S
|
28007957 |
2017 |
37 |
The FA Core Complex Contains a Homo-dimeric Catalytic Module for the Symmetric Mono-ubiquitination of FANCI-FANCD2.
61
|
Swuec P...Costa A
|
27986592 |
2017 |
38 |
Mechanism of Ubiquitination and Deubiquitination in the Fanconi Anemia Pathway.
61
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van Twest S...Deans AJ
|
27986371 |
2017 |
39 |
Elucidation of the Fanconi Anemia Protein Network in Meiosis and Its Function in the Regulation of Histone Modifications.
61
|
Alavattam KG...Namekawa SH
|
27760317 |
2016 |
40 |
Pathological complete response after cisplatin neoadjuvant therapy is associated with the downregulation of DNA repair genes in BRCA1-associated triple-negative breast cancers.
61
|
Domagala P...Lubinski J
|
27626685 |
2016 |
41 |
X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy.
61
|
Mikat B...Wieczorek D
|
26683739 |
2016 |
42 |
Fancb deficiency impairs hematopoietic stem cell function.
61
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Du W...Pang Q
|
26658157 |
2015 |
43 |
FANCB is essential in the male germline and regulates H3K9 methylation on the sex chromosomes during meiosis.
61
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Kato Y...Namekawa SH
|
26123487 |
2015 |
44 |
Uncoupling of transcription and translation of Fanconi anemia (FANC) complex proteins during spermatogenesis.
61
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Jamsai D...O'Bryan MK
|
26413409 |
2015 |
45 |
RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway.
61
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Kim TM...Hasty P
|
25520194 |
2015 |
46 |
Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.
61
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Flynn EK...Chandrasekharappa SC
|
25168418 |
2014 |
47 |
The genetic and biochemical basis of FANCD2 monoubiquitination.
61
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Rajendra E...Passmore LA
|
24905007 |
2014 |
48 |
Modularized functions of the Fanconi anemia core complex.
61
|
Huang Y...Li L
|
24910428 |
2014 |
49 |
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.
61
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De Rocco D...Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology
|
24584348 |
2014 |
50 |
Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
61
|
Winberg J...Nordenskjold A
|
24416387 |
2014 |