U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 32

1.
ADAM19 cleaves the PTH receptor and associates with brachydactyly type E
Atakan Aydin, Christoph Klenk, Katarina Nemec, Ali Işbilir, Lisa M Martin, Henrik Zauber, Trendelina Rrustemi, Hakan R Toka, Herbert Schuster, Maolian Gong, Sigmar Stricker, Andreas Bock, Sylvia Bähring, Matthias Selbach, Martin J Lohse, Friedrich C Luft
Life Sci Alliance. 2024 Apr; 7(4): e202302400. Published online 2024 Feb 8. doi: 10.26508/lsa.202302400
PMCID:
PMC10853454
AbstractArticlePDF–2.5M
2.
Isolated brachydactyly type E caused by a HOXD13 nonsense mutation: a case report
Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek, Anna Latos-Bieleńska
BMC Med Genet. 2012; 13: 4. Published online 2012 Jan 10. doi: 10.1186/1471-2350-13-4
PMCID:
PMC3278352
AbstractArticlePDF–323K
3.
A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E
Philipp G. Maass, Jutta Wirth, Atakan Aydin, Andreas Rump, Sigmar Stricker, Sigrid Tinschert, Miguel Otero, Kaneyuki Tsuchimochi, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring
Hum Mol Genet. 2010 Mar 1; 19(5): 848–860. Published online 2009 Dec 16. doi: 10.1093/hmg/ddp553
PMCID:
PMC3031338
AbstractArticlePDF–500K
4.
Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report
Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang, Dao Wu Wang
BMC Med Genet. 2020; 21: 144. Published online 2020 Jul 6. doi: 10.1186/s12881-020-01077-z
PMCID:
PMC7336660
AbstractArticlePDF–2.0M
5.
A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum
Jia Huang, Hong-Yan Liu, Rong-Rong Wang, Hai Xiao, Dong Wu, Tao Li, Ying-Hai Jiang, Xue Zhang
Chin Med J (Engl) 2019 Jul 20; 132(14): 1681–1688. Published online 2019 Jul 20. doi: 10.1097/CM9.0000000000000327
PMCID:
PMC6759105
AbstractArticlePDF–917K
6.
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
Ricarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, Jean-François Chateil, Didier Lacombe, Stefan Mundlos, Denise Horn, Malte Spielmann
Eur J Hum Genet. 2016 Aug; 24(8): 1132–1136. Published online 2016 Jan 6. doi: 10.1038/ejhg.2015.266
PMCID:
PMC4970681
AbstractArticlePDF–842K
7.
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, Fahed Halal, Gordon Gowans, D. Ross McLeod, Sara Zondag, Helga V. Toriello, R. Ellen Magenis, Sarah H. Elsea
Am J Hum Genet. 2010 Aug 13; 87(2): 219–228. doi: 10.1016/j.ajhg.2010.07.011
PMCID:
PMC2917703
AbstractArticlePDF–1.1M
8.
Isolated brachydactyly type E and idiopathic pancreatitis in a patient presenting to a lipid disorders clinic
Michael M Page, Amanda J Hooper, Paul Glendenning, John R Burnett
BMJ Case Rep. 2017; 2017: bcr2016218825. Published online 2017 Apr 6. doi: 10.1136/bcr-2016-218825
PMCID:
PMC5534779
AbstractArticlePDF–317K
9.
Genetic “lnc”-age of noncoding RNAs to human disease
Andrew Troy, Norman E. Sharpless
J Clin Invest. 2012 Nov 1; 122(11): 3837–3840. Published online 2012 Oct 24. doi: 10.1172/JCI66645
PMCID:
PMC3484469
AbstractArticlePDF–503K
10.
A misplaced lncRNA causes brachydactyly in humans
Philipp G. Maass, Andreas Rump, Herbert Schulz, Sigmar Stricker, Lisanne Schulze, Konrad Platzer, Atakan Aydin, Sigrid Tinschert, Mary B. Goldring, Friedrich C. Luft, Sylvia Bähring
J Clin Invest. 2012 Nov 1; 122(11): 3990–4002. Published online 2012 Oct 24. doi: 10.1172/JCI65508
PMCID:
PMC3485082
AbstractArticlePDF–2.6M
11.
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4
Pablo Villavicencio-Lorini, Eva Klopocki, Marc Trimborn, Randi Koll, Stefan Mundlos, Denise Horn
Eur J Hum Genet. 2013 Jul; 21(7): 743–748. Published online 2012 Nov 28. doi: 10.1038/ejhg.2012.240
PMCID:
PMC3722943
AbstractArticlePDF–2.0M
12.
Non-Syndromic Brachydactyly Type D and Type E Mapped to 7p15 in Healthy Children and Adults from the Jirel Ethnic Group in Eastern Nepal
Kimberly D. Williams, John Blangero, Janardan Subedi, Bharat Jha, Thomas Dyer, John L. VandeBerg, Bradford Towne, Sarah Williams-Blangero
Am J Hum Biol. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: Am J Hum Biol. 2013 Nov-Dec; 25(6): 743–750. Published online 2013 Sep 10. doi: 10.1002/ajhb.22441
PMCID:
PMC3968259
AbstractArticlePDF–1.2M
13.
What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis
Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares
BMC Med Genet. 2018; 19: 32. Published online 2018 Mar 2. doi: 10.1186/s12881-018-0530-z
PMCID:
PMC5834905
AbstractArticlePDF–742K
14.
Severe brachydactyly and short stature resulting from a novel pathogenic TRPS1 variant within the GATA DNA-binding domain
Anara Karaca, Monica Reyes, Lauren T. Shumate, Isilay Taskaldiran, Tulay Omma, Nese Ersoz Gulcelik, Murat Bastepe
Bone. Author manuscript; available in PMC 2020 Jun 1.
Published in final edited form as: Bone. 2019 Jun; 123: 153–158. Published online 2019 Mar 23. doi: 10.1016/j.bone.2019.03.028
PMCID:
PMC6506180
AbstractArticlePDF–1.0M
15.
Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
Francesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, Matteo Piu, Maria A. Maffini, Jole Costanza, Laura Fontana, Carlo Santaniello, Concetta Forino, Donatella Milani, Maria Teresa Bonati, Andrea Secco, Roberto Gastaldi, Carlo Alfieri, Piergiorgio Messa, Monica Miozzo, Maura Arosio, Giovanna Mantovani
J Bone Miner Res. 2022 Mar; 37(3): 465–474. Published online 2022 Jan 17. doi: 10.1002/jbmr.4490
PMCID:
PMC9305952
AbstractArticlePDF–3.3M
16.
Genotype–Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review
Eva-Cristiana Gavril, Irina Nucă, Monica-Cristina Pânzaru, Anca Viorica Ivanov, Cosmin-Teodor Mihai, Lucian-Mihai Antoci, Cristian-Gabriel Ciobanu, Cristina Rusu, Roxana Popescu
Genes (Basel) 2023 Feb; 14(2): 465. Published online 2023 Feb 11. doi: 10.3390/genes14020465
PMCID:
PMC9957522
AbstractArticlePDF–2.1M
17.
Kyphomelic dysplasia in two sib fetuses.
C P Chen, S R Chern, S L Shih, C Y Chuang, F Y Huang
J Med Genet. 1998 Jan; 35(1): 65–69. doi: 10.1136/jmg.35.1.65
PMCID:
PMC1051191
SummaryPage BrowsePDF–1.8M
18.
Differential Gene Expression Profiling of Cultured neu-Transformed Versus Spontaneously-Transformed Rat Cholangiocytes and of Corresponding Cholangiocarcinomas
Catherine I. Dumur, Deanna J.W. Campbell, Jennifer L. DeWitt, Regina A. Oyesanya, Alphonse E. Sirica
Exp Mol Pathol. Author manuscript; available in PMC 2011 Dec 1.
Published in final edited form as: Exp Mol Pathol. 2010 Dec; 89(3): 227–235. Published online 2010 Sep 9. doi: 10.1016/j.yexmp.2010.08.007
PMCID:
PMC2981699
AbstractArticlePDF–990K
19.
Deletion and Point Mutations of PTHLH Cause Brachydactyly Type E
Eva Klopocki, Bianca P. Hennig, Katarina Dathe, Randi Koll, Thomy de Ravel, Emiel Baten, Eveline Blom, Yves Gillerot, Johannes F.W. Weigel, Gabriele Krüger, Olaf Hiort, Petra Seemann, Stefan Mundlos
Am J Hum Genet. 2010 Mar 12; 86(3): 434–439. doi: 10.1016/j.ajhg.2010.01.023
PMCID:
PMC2833367
AbstractArticlePDF–492K
20.
Isolated autosomal dominant type E brachydactyly: exclusion of linkage to candidate regions 2q37 and 20q13.
M E Oude Luttikhuis, D K Williams, R C Trembath
J Med Genet. 1996 Oct; 33(10): 873–876. doi: 10.1136/jmg.33.10.873
PMCID:
PMC1050770
SummaryPage BrowsePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center