175 related articles for article (PubMed ID: 35831859)
1. Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M; Lu S; Sun X; Zhao M; Wang J; Su X; Jin B; Sun L
BMC Med Genomics; 2022 Jul; 15(1):157. PubMed ID: 35831859
[TBL] [Abstract][Full Text] [Related]
2. A Novel Missense Variant of
Geng H; Tang D; Xu C; He X; Zhang Z
Biomed Res Int; 2020; 2020():4215632. PubMed ID: 33294441
[TBL] [Abstract][Full Text] [Related]
3. Sequence Variants in the
Bilal M; Hayat A; Umair M; Ullah A; Khawaja S; Malik E; Burmeister M; Bibi N; Umm-E-Kalsoom ; Memon MI; Basit S; Ahmad W; Khan B
Genet Test Mol Biomarkers; 2020 Sep; 24(9):600-607. PubMed ID: 32762550
[No Abstract] [Full Text] [Related]
4. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.
Peng Y; Yang S; Xi H; Hu J; Jia Z; Pang J; Liu J; Yu W; Tang C; Wang H
Mol Genet Genomic Med; 2021 Mar; 9(3):e1604. PubMed ID: 33471964
[TBL] [Abstract][Full Text] [Related]
5. A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY; Zeng L; Li K; He JQ; Pang X; Huang H; Xiang R; Tang JY
J Gene Med; 2019 Oct; 21(10):e3122. PubMed ID: 31420900
[TBL] [Abstract][Full Text] [Related]
6. [Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing].
Liu Y; Cheng L; Weng X; Jin X; Yan N; Wang H; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):139-141. PubMed ID: 32034739
[TBL] [Abstract][Full Text] [Related]
7. [Genetic analysis of three families affected with split-hand/split-foot malformation].
He W; Lin G; Liang P; Cheng D; Hu X; Zhou L; Xiong B; Tan Y; Lu G; Li W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Aug; 34(4):476-480. PubMed ID: 28777841
[TBL] [Abstract][Full Text] [Related]
8. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families.
Sowińska-Seidler A; Badura-Stronka M; Latos-Bieleńska A; Stronka M; Jamsheer A
Birth Defects Res A Clin Mol Teratol; 2014 Oct; 100(10):764-71. PubMed ID: 25196357
[TBL] [Abstract][Full Text] [Related]
9. A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia.
Zhou X; Zhang C; Fan L; Wu S; Yao S; Wang L; Zhong W; Ma L; Pan Y
Arch Oral Biol; 2023 Aug; 152():105731. PubMed ID: 37257258
[TBL] [Abstract][Full Text] [Related]
10. Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
Enriquez A; Krivanek M; Flöttmann R; Peters H; Wilson M
Am J Med Genet A; 2016 Sep; 170(9):2372-6. PubMed ID: 27351625
[TBL] [Abstract][Full Text] [Related]
11. Familial cleft tongue caused by a unique translation initiation codon variant in TP63.
Schmidt J; Schreiber G; Altmüller J; Thiele H; Nürnberg P; Li Y; Kaulfuß S; Funke R; Wilken B; Yigit G; Wollnik B
Eur J Hum Genet; 2022 Feb; 30(2):211-218. PubMed ID: 34629465
[TBL] [Abstract][Full Text] [Related]
12. Anorectal malformation associated with a mutation in the P63 gene in a family with split hand-foot malformation.
Su P; Yuan Y; Huang Y; Wang W; Zhang Z
Int J Colorectal Dis; 2013 Dec; 28(12):1621-7. PubMed ID: 23736768
[TBL] [Abstract][Full Text] [Related]
13. A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation.
Simonazzi G; Miccoli S; Salfi N; Bonasoni MP; Bocciardi R; Ravazzolo R; Seri M; Curti A; Pilu G; Rizzo N; Turchetti D
Prenat Diagn; 2012 Mar; 32(3):296-8. PubMed ID: 22430731
[No Abstract] [Full Text] [Related]
14. Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree.
Yang X; Lin X; Zhu Y; Luo J; Lin G
Mol Med Rep; 2018 Jun; 17(6):7553-7558. PubMed ID: 29620206
[TBL] [Abstract][Full Text] [Related]
15. Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
Serra V; Castori M; Paradisi M; Bui L; Melino G; Terrinoni A
Am J Med Genet A; 2011 Dec; 155A(12):3104-9. PubMed ID: 22069181
[TBL] [Abstract][Full Text] [Related]
16. Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect.
Mathorne SW; Ravn P; Hansen D; Beck-Nielsen SS; Gjørup H; Sørensen KP; Fagerberg CR
Clin Genet; 2020 May; 97(5):779-784. PubMed ID: 32067224
[TBL] [Abstract][Full Text] [Related]
17. [Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].
Dai L; Li NN; Deng Y; Mao M; Wang H; Zhu J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Aug; 28(4):379-82. PubMed ID: 21811974
[TBL] [Abstract][Full Text] [Related]
18. Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
Vera-Carbonell A; Moya-Quiles MR; Ballesta-Martínez M; López-González V; Bafallíu JA; Guillén-Navarro E; López-Expósito I
Gene; 2012 Apr; 497(2):292-7. PubMed ID: 22342398
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.
Wang X; Xin Q; Li L; Li J; Zhang C; Qiu R; Qian C; Zhao H; Liu Y; Shan S; Dang J; Bian X; Shao C; Gong Y; Liu Q
Eur J Hum Genet; 2014 Sep; 22(9):1105-10. PubMed ID: 24496061
[TBL] [Abstract][Full Text] [Related]
20. Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family.
Alrayes N; Aziz A; Ullah F; Ishfaq M; Jelani M; Wali A
J Gene Med; 2020 Jan; 22(1):e3143. PubMed ID: 31750994
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
