153 related articles for article (PubMed ID: 29023680)
21. Abnormal urethra formation in mouse models of split-hand/split-foot malformation type 1 and type 4.
Suzuki K; Haraguchi R; Ogata T; Barbieri O; Alegria O; Vieux-Rochas M; Nakagata N; Ito M; Mills AA; Kurita T; Levi G; Yamada G
Eur J Hum Genet; 2008 Jan; 16(1):36-44. PubMed ID: 17878916
[TBL] [Abstract][Full Text] [Related]
22. Phenotypic subregions within the split-hand/foot malformation 1 locus.
Rasmussen MB; Kreiborg S; Jensen P; Bak M; Mang Y; Lodahl M; Budtz-Jørgensen E; Tommerup N; Tranebjærg L; Rendtorff ND
Hum Genet; 2016 Mar; 135(3):345-57. PubMed ID: 26839112
[TBL] [Abstract][Full Text] [Related]
23. Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.
Paththinige CS; Sirisena ND; Escande F; Manouvrier S; Petit F; Dissanayake VHW
BMC Med Genet; 2019 Jun; 20(1):108. PubMed ID: 31200655
[TBL] [Abstract][Full Text] [Related]
24. BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling.
Chouery E; Tahan E; Karam R; Pharoun J; Mehawej C; Megarbane A
Am J Med Genet A; 2023 Apr; 191(4):923-929. PubMed ID: 36565049
[TBL] [Abstract][Full Text] [Related]
25. Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3.
Qiu L; Li C; Zheng G; Yang T; Yang F
Clin Genet; 2022 Nov; 102(5):451-456. PubMed ID: 35908152
[TBL] [Abstract][Full Text] [Related]
26. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans.
Lango Allen H; Caswell R; Xie W; Xu X; Wragg C; Turnpenny PD; Turner CL; Weedon MN; Ellard S
J Med Genet; 2014 Apr; 51(4):264-7. PubMed ID: 24459211
[TBL] [Abstract][Full Text] [Related]
27. A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations.
Al Ghamdi MA; Al-Qattan MM; Hadadi A; Alabdulrahman A; Almuzzaini B; Alatwi N; AlBalwi MA
Eur J Med Genet; 2020 Mar; 63(3):103738. PubMed ID: 31421290
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I.
Rattanasopha S; Tongkobpetch S; Srichomthong C; Kitidumrongsook P; Suphapeetiporn K; Shotelersuk V
J Med Genet; 2014 Dec; 51(12):817-23. PubMed ID: 25332435
[TBL] [Abstract][Full Text] [Related]
30. A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.
Khan A; Wang R; Han S; Umair M; Alshabeeb MA; Ansar M; Ahmad W; Alaamery M; Zhang X
Front Pediatr; 2019; 7():526. PubMed ID: 31998667
[TBL] [Abstract][Full Text] [Related]
31. p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H; Hamel BC; Bamshad M; Sangiorgi E; Gurrieri F; Duijf PH; Vanmolkot KR; van Beusekom E; van Beersum SE; Celli J; Merkx GF; Tenconi R; Fryns JP; Verloes A; Newbury-Ecob RA; Raas-Rotschild A; Majewski F; Beemer FA; Janecke A; Chitayat D; Crisponi G; Kayserili H; Yates JR; Neri G; Brunner HG
Am J Hum Genet; 2001 Sep; 69(3):481-92. PubMed ID: 11462173
[TBL] [Abstract][Full Text] [Related]
32. A complex structural variant near
de Boer E; Marcelis C; Neveling K; van Beusekom E; Hoischen A; Klein WM; de Leeuw N; Mantere T; Melo US; van Reeuwijk J; Smeets D; Spielmann M; Kleefstra T; van Bokhoven H; Vissers LELM
HGG Adv; 2023 Jul; 4(3):100200. PubMed ID: 37216008
[TBL] [Abstract][Full Text] [Related]
33. Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases.
Gül D; Oktenli C
Clin Dysmorphol; 2002 Jul; 11(3):183-6. PubMed ID: 12072797
[TBL] [Abstract][Full Text] [Related]
34. Genetic regulatory pathways of split-hand/foot malformation.
Kantaputra PN; Carlson BM
Clin Genet; 2019 Jan; 95(1):132-139. PubMed ID: 30101460
[TBL] [Abstract][Full Text] [Related]
35. Rare missense variant p.Ala505Ser in the ZAK protein observed in a patient with split-hand/foot malformation from a non-consanguineous pedigree.
Funk CR; Huey ES; May MM; Peng Y; Michonova E; Best RG; Schwartz CE; Blenda AV
J Int Med Res; 2020 Apr; 48(4):300060519879293. PubMed ID: 32266845
[TBL] [Abstract][Full Text] [Related]
36. Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation.
Ullah A; Gul A; Umair M; Irfanullah ; Ahmad F; Aziz A; Wali A; Ahmad W
Genet Mol Biol; 2018; 41(1):1-8. PubMed ID: 29384555
[TBL] [Abstract][Full Text] [Related]
37. A Novel Heterozygous Intragenic Sequence Variant in
Ullah A; Hammid A; Umair M; Ahmad W
Mol Syndromol; 2017 Mar; 8(2):79-84. PubMed ID: 28611547
[TBL] [Abstract][Full Text] [Related]
38. [Genetic analysis of a pedigree affected with congenital split-hand/foot malformation].
Li Q; Tong M; Chen C; Ji Y; Zhou K; Xu G; Hu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):467-470. PubMed ID: 32219839
[TBL] [Abstract][Full Text] [Related]
39. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion-evidence for further heterogeneity?
Aten E; den Hollander N; Ruivenkamp C; Knijnenburg J; van Bokhoven H; den Dunnen J; Breuning M
Am J Med Genet A; 2009 May; 149A(5):975-81. PubMed ID: 19353584
[TBL] [Abstract][Full Text] [Related]
40. Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP; Nataren NJ; Klingler-Hoffmann M; Schwarz Q; Chong CE; Lee YK; Bruno DL; Lipsett J; McPhee AJ; Schreiber AW; Feng J; Hahn CN; Scott HS
Hum Mutat; 2016 Sep; 37(9):955-63. PubMed ID: 27323706
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
