PMC Articles for MedGen (Select 354620) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 354

<< First< Prev

Page of 18

Select item 98901661.

Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia

Xingxing Qiao, Liping Wu, Jianjun Tang, Rong Xiang, Liangliang Fan, Hao Huang, Yaqin Chen

Front Pediatr. 2022; 10: 1089194. Published online 2023 Jan 18. doi: 10.3389/fped.2022.1089194

PMCID:: PMC9890166

Abstract Article PDF–11M

Select item 44776572.

The SOX9 upstream region prone to chromosomal aberrations causing campomelic dysplasia contains multiple cartilage enhancers

Baojin Yao, Qiuqing Wang, Chia-Feng Liu, Pallavi Bhattaram, Wei Li, Timothy J. Mead, James F. Crish, Véronique Lefebvre

Nucleic Acids Res. 2015 Jun 23; 43(11): 5394–5408. Published online 2015 May 4. doi: 10.1093/nar/gkv426

PMCID:: PMC4477657

Abstract Article PDF–8.3M

Select item 54414003.

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

Anna E. von Bohlen, Johann Böhm, Ramona Pop, Diana S. Johnson, John Tolmie, Ralf Stücker, Deborah Morris‐Rosendahl, Gerd Scherer

Mol Genet Genomic Med. 2017 May; 5(3): 261–268. Published online 2017 Mar 21. doi: 10.1002/mgg3.282

PMCID:: PMC5441400

Abstract Article PDF–618K

Select item 18013684.

Mutations in SOX9, the Gene Responsible for Campomelic Dysplasia and Autosomal Sex Reversal

Cheni Kwok, Polly A. Weller, Silvana Guioli, Jamie W. Foster, Sahar Mansour, Orsetta Zuffardi, Hope H. Punnett, Marina A. Dominguez-Steglich, J. David Brook, Ian D. Young, Peter N. Goodfellow, Alan J. Schafer

Am J Hum Genet. 1995 Nov; 57(5): 1028–1036.

PMCID:: PMC1801368

Summary Page Browse PDF–1.7M

Select item 10159255.

Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

I D Young, J M Zuccollo, E L Maltby, N J Broderick

J Med Genet. 1992 Apr; 29(4): 251–252. doi: 10.1136/jmg.29.4.251

PMCID:: PMC1015925

Summary Page Browse PDF–739K

Select item 10164996.

Campomelic dysplasia: evidence of autosomal dominant inheritance.

S A Lynch, M L Gaunt, A M Minford

J Med Genet. 1993 Aug; 30(8): 683–686. doi: 10.1136/jmg.30.8.683

PMCID:: PMC1016499

Summary Page Browse PDF–1.1M

Select item 44622837.

A case of campomelic dysplasia in whom a new mutation was found in the SOX9 gene

Kadri Karaer, Zafer Yüksel, Esin Yalınbaş, Gerd Scherer

Turk Pediatri Ars. 2014 Jun; 49(2): 154–156. Published online 2014 Jun 1. doi: 10.5152/tpa.2014.1187

PMCID:: PMC4462283

Abstract Article PDF–312K

Select item 10504808.

A clinical and genetic study of campomelic dysplasia.

S Mansour, C M Hall, M E Pembrey, I D Young

J Med Genet. 1995 Jun; 32(6): 415–420. doi: 10.1136/jmg.32.6.415

PMCID:: PMC1050480

Summary Page Browse PDF–1.4M

Select item 59831769.

A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9

Prince Antwi, Christopher S. Hong, Daniel Duran, Sheng Chih Jin, Weilai Dong, Michael DiLuna, Kristopher T. Kahle

Cold Spring Harb Mol Case Stud. 2018 Jun; 4(3): a002766. doi: 10.1101/mcs.a002766

PMCID:: PMC5983176

Abstract Article PDF–4.0M

Select item 631910110.

Campomelic dysplasia with 10 pairs of ribs in a preterm neonate: A case report

Laxman Basani, Roja Aepala, Naresh Macha

Indian J Radiol Imaging. 2018 Oct-Dec; 28(4): 456–459. doi: 10.4103/ijri.IJRI_173_18

PMCID:: PMC6319101

Abstract Article PDF–1.3M

Select item 469412811.

Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9

Yuko Katoh‐Fukui, Maki Igarashi, Keisuke Nagasaki, Reiko Horikawa, Toshiro Nagai, Takayoshi Tsuchiya, Erina Suzuki, Mami Miyado, Kenichiro Hata, Kazuhiko Nakabayashi, Keiko Hayashi, Yoichi Matsubara, Takashi Baba, Ken‐ichirou Morohashi, Arisa Igarashi, Tsutomu Ogata, Shuji Takada, Maki Fukami

Mol Genet Genomic Med. 2015 Nov; 3(6): 550–557. Published online 2015 Jul 14. doi: 10.1002/mgg3.165

PMCID:: PMC4694128

Abstract Article PDF–893K

Select item 946562712.

Case report: Cystic hygroma accompanied with campomelic dysplasia in the first trimester caused by haploinsufficiency with SOX9 deletion

Xijing Liu, Jianmin Wang, Mei Yang, Tian Tian, Ting Hu

Front Genet. 2022; 13: 950271. Published online 2022 Aug 29. doi: 10.3389/fgene.2022.950271

PMCID:: PMC9465627

Abstract Article PDF–1.3M

Select item 365889913.

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia

Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto, Angela M Vianna-Morgante

BMC Med Genet. 2013; 14: 50. Published online 2013 May 7. doi: 10.1186/1471-2350-14-50

PMCID:: PMC3658899

Abstract Article PDF–1.4M

Select item 105137214.

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

R Savarirayan, A Bankier

J Med Genet. 1998 Jul; 35(7): 597–599. doi: 10.1136/jmg.35.7.597

PMCID:: PMC1051372

Summary Page Browse PDF–831K

Select item 441556315.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations

Eduardo P. Mattos, Maria Teresa V. Sanseverino, José Antônio A. Magalhães, Júlio César L. Leite, Temis Maria Félix, Luiz Alberto Todeschini, Denise P. Cavalcanti, Lavinia Schüler-Faccini

Genet Mol Biol. 2015 Mar; 38(1): 14–20. Published online 2014 Mar 17. doi: 10.1590/S1415-475738120140147

PMCID:: PMC4415563

Abstract Article PDF–1.3M

Select item 663734816.

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt

Clin Case Rep. 2019 Jul; 7(7): 1352–1354. Published online 2019 Jun 3. doi: 10.1002/ccr3.2228

PMCID:: PMC6637348

Abstract Article PDF–238K

Select item 301284017.

A Case of Campomelic Dysplasia without Sex Reversal

Hyoung-Young Kim, Chong Hyun Yoon, Gu-Hwan Kim, Han-Wook Yoo, Byong Sop Lee, Ki Soo Kim, Ellen Ai-Rhan Kim

J Korean Med Sci. 2011 Jan; 26(1): 143–145. Published online 2010 Dec 22. doi: 10.3346/jkms.2011.26.1.143

PMCID:: PMC3012840

Abstract Article PDF–702K

Select item 119930218.

Position Effects Due to Chromosome Breakpoints that Map ∼900 Kb Upstream and ∼1.3 Mb Downstream of SOX9 in Two Patients with Campomelic Dysplasia

Gopalrao V. N. Velagaleti, Gabriel A. Bien-Willner, Jill K. Northup, Lillian H. Lockhart, Judy C. Hawkins, Syed M. Jalal, Marjorie Withers, James R. Lupski, Pawel Stankiewicz

Am J Hum Genet. 2005 Apr; 76(4): 652–662. Published online 2005 Feb 22. doi: 10.1086/429252