PMC Articles for MedGen (Select 10031) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Next >Last >>

Select item 91857041.

A Novel Dominant COL11A1 Mutation Resulting in a Severe Skeletal Dysplasia

Sophia B Hufnagel, K Nicole Weaver, Robert B Hufnagel, Patricia I Bader, Elizabeth K Schorry, Robert J Hopkin

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 10.

Published in final edited form as: Am J Med Genet A. 2014 Oct; 164A(10): 2607–2612. Published online 2014 Aug 4. doi: 10.1002/ajmg.a.36688

PMCID:: PMC9185704

Article PDF–355K

Select item 75803122.

Thanatophoric Skeletal Dysplasia: A Case Report

Firoz Anjum, Sunil Kumar Daha, Ganesh Shah

JNMA J Nepal Med Assoc. 2020 Mar; 58(223): 185–187. Published online 2020 Mar 31. doi: 10.31729/jnma.4488

PMCID:: PMC7580312

Article PDF–938K

Select item 74380043.

Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia

Kyle D. Drake, Christopher Lemoine, Gabriela S. Aquino, Anna M. Vaeth, Rahul N. Kanadia

Development. 2020 Nov 1; 147(21): dev190967. Published online 2020 Aug 14. doi: 10.1242/dev.190967

PMCID:: PMC7438004

Article

Select item 70429684.

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew P Jackson, Carlos Ferreira, Louise S Bicknell

J Med Genet. 2020 Mar; 57(3): 195–202. Published online 2019 Nov 29. doi: 10.1136/jmedgenet-2019-106396

PMCID:: PMC7042968

Article PDF–1.8M

Select item 69362495.

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Ender Karaca, Jennifer E. Posey, Bret Bostwick, Pengfei Liu, Alper Gezdirici, Gozde Yesil, Zeynep Coban Akdemir, Yavuz Bayram, Frederike Leonie Harms, Peter Meinecke, Malik Alawi, Carlos A. Bacino, V. Reid Sutton, Fanny Kortum, James. R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2020 Oct 1.

Published in final edited form as: Am J Med Genet A. 2019 Oct; 179(10): 2056–2066. Published online 2019 Aug 13. doi: 10.1002/ajmg.a.61315

PMCID:: PMC6936249

Article PDF–874K

Select item 60144736.

Dyssegmental dysplasia, Silverman‐Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy

Shuaa Basalom, Yannis Trakadis, Roberta Shear, Michel E. Azouz, Isabelle De Bie

Mol Genet Genomic Med. 2018 May; 6(3): 452–456. Published online 2018 Mar 11. doi: 10.1002/mgg3.379

PMCID:: PMC6014473

Article PDF–603K

Select item 55388197.

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino–Noonan type

N. Badiner, S.P. Taylor, K. Forlenza, R. S. Lachman, M. Bamshad, D. Nickerson, D. H. Cohn, D. Krakow

Clin Genet. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Clin Genet. 2017 Aug; 92(2): 158–165. Published online 2017 Mar 13. doi: 10.1111/cge.12947

PMCID:: PMC5538819

Article PDF–311K

Select item 55385498.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, R. Sean Hill, Michael E. Coulter, Anh-Thu N. Lam, Divya Jayaraman, Dianne Gerrelli, Diana G. Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, M. Jocelyne Martel, Betty Spooner, Steven C. Ryu, Princess C. Elhosary, Jillian M. Richardson, Danielle Tierney, Christopher A. Robinson, Rajni Chibbar, Dana Diudea, Rebecca Folkerth, Sheldon Wiebe, A. James Barkovich, Ganeshwaran H. Mochida, James Irvine, Edmond G. Lemire, Patricia Blakley, Christopher A. Walsh

Genome Res. 2017 Aug; 27(8): 1323–1335. doi: 10.1101/gr.219899.116

PMCID:: PMC5538549

Article PDF–587K

Select item 35424639.

Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

Céline Huber, Eissa Ali Faqeih, Deborah Bartholdi, Christine Bole-Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschke, Joelle Roume, Heloísa G. Santos, Stavit A. Shalev, Andrea Superti-Furga, Anne-Lise Delezoide, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Am J Hum Genet. 2013 Jan 10; 92(1): 144–149. doi: 10.1016/j.ajhg.2012.11.015

PMCID:: PMC3542463

Article PDF–310K

Select item 299524210.

Cornelia de Lange Syndrome with NIPBL Gene Mutation: A Case Report

Kyung-Hee Park, Seung-Tae Lee, Chang-Seok Ki, Shin-Yun Byun

J Korean Med Sci. 2010 Dec; 25(12): 1821–1823. Published online 2010 Nov 24. doi: 10.3346/jkms.2010.25.12.1821

PMCID:: PMC2995242

Article PDF–789K

Select item 276748611.

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

M. J. Trujillo-Tiebas, M. Fenollar-Cortés, I. Lorda-Sánchez, J. Díaz-Recasens, A. Carrillo Redondo, C. Ramos-Corrales, C. Ayuso

J Assist Reprod Genet. 2009 Aug; 26(8): 455–460. Published online 2009 Sep 30. doi: 10.1007/s10815-009-9339-1

PMCID:: PMC2767486

Article PDF–147K

Select item 256989912.

The Heterozygous Disproportionate Micromelia (Dmm) Mouse: Morphological Changes in Fetal Cartilage Precede Postnatal Dwarfism and Compared With Lethal Homozygotes Can Explain the Mild Phenotype

Robert E. Seegmiller, Brandon D. Bomsta, Laura C. Bridgewater, Cindy M. Niederhauser, Carolina Montaño, Sterling Sudweeks, David R. Eyre, Russell J. Fernandes

J Histochem Cytochem. 2008 Nov; 56(11): 1003–1011. doi: 10.1369/jhc.2008.951673

PMCID:: PMC2569899

Article PDF–2.6M

Select item 105072813.

Clinical and genetic heterogeneity of hypochondroplasia.

F Rousseau, J Bonaventure, L Legeai-Mallet, H Schmidt, J Weissenbach, P Maroteaux, A Munnich, M Le Merrer

J Med Genet. 1996 Sep; 33(9): 749–752. doi: 10.1136/jmg.33.9.749

PMCID:: PMC1050728

Summary Page Browse PDF–1.0M

Select item 101555714.

Spondyloenchondrodysplasia.

H Menger, K Kruse, J Spranger

J Med Genet. 1989 Feb; 26(2): 93–99. doi: 10.1136/jmg.26.2.93

PMCID:: PMC1015557

Summary Page Browse PDF–1.8M

Select item 371683315.

Osteoarthritis in Temporomandibular Joint of Col2a1 Mutant Mice

M. L. Ricks, J.T. Farrell, D. J. Falk, D W. Holt, M. Rees, J. Carr, T. Williams, B.A. Nichols, L. C. Bridgewater, P. R. Reynolds, D L Kooyman, R. E. Seegmiller

Arch Oral Biol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Arch Oral Biol. 2013 Sep; 58(9): 1092–1099. Published online 2013 Mar 19. doi: 10.1016/j.archoralbio.2013.02.008

PMCID:: PMC3716833

Article PDF–2.2M

Select item 1088377716.

Sporadic Class II Congenital humeroradial synostosis and Left Micromelia in a three-and-a-half-months female Ghanaian infant

Edmund Kwakye Brakohiapa, Michael Segbefia, Obed Nimo, Benjamin Dabo Sarkodie, Klenam Dzefi-Tettey, Emmanuel Onimole, Maxwell Opoku, Clarence Basogloyele, Emmanuel Kobina Mesi Edzie

Radiol Case Rep. 2024 May; 19(5): 1797–1800. Published online 2024 Feb 17. doi: 10.1016/j.radcr.2024.01.072

PMCID:: PMC10883777

Article PDF–771K

Select item 1086087517.

Role of gene interactions in the pathophysiology of skeletal dysplasias: A case report in Colombia

Nathalie Yepes Madrid, Lina Johanna Moreno Giraldo

J Genet Eng Biotechnol. 2024 Mar; 22(1): 100350. Published online 2024 Feb 1. doi: 10.1016/j.jgeb.2023.100350

PMCID:: PMC10860875

Article PDF–597K

Select item 1061788518.

Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports

Abhigan Babu Shrestha, Sanskriti Chapagain, Tungki Pratama Umar, Randhir Sagar Yadav, Shumneva Shrestha, Kiran Bhandari, Ranjana Sedai, Aryan Poudel, Chadani Mahat, Shreeya Sharma, Alish Bhandari

Ann Med Surg (Lond) 2023 Nov; 85(11): 5785–5788. Published online 2023 Oct 4. doi: 10.1097/MS9.0000000000001356

PMCID:: PMC10617885

Article PDF–324K

Select item 1052846019.

Skeletal Dysplasia: A Case Report

Nicolae Gică, Gabriela Mîrza, Corina Gică, Anca Maria Panaitescu, Anca Marina Ciobanu, Gheorghe Peltecu, Iulia Huluță

Diagnostics (Basel) 2023 Sep; 13(18): 2905. Published online 2023 Sep 11. doi: 10.3390/diagnostics13182905

PMCID:: PMC10528460

Article PDF–5.5M

Select item 1040606220.

A rare case of SCHMID metaphyseal chondrodysplasia associated with hypothyroidism,growth hormone deficiency and celiac disease: case report

Ahmad Chreitah, Fatima Bress, Omar Aljanati, Zeina Alkilany, Aria Mohammed, Fatima Kherbek

Ann Med Surg (Lond) 2023 Aug; 85(8): 4045–4049. Published online 2023 Jun 28. doi: 10.1097/MS9.0000000000000751

PMCID:: PMC10406062

Article PDF–370K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity