PMC Articles for MedGen (Select 120497) - PMC

Result Filters

Links from MedGen

Items: 14

Select item 105248101.

Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias

Mine Koprulu, Rana Muhammad Kamran Shabbir, Sara Mumtaz, Aslıhan Tolun, Sajid Malik

Yale J Biol Med. 2023 Sep; 96(3): 367–382. Published online 2023 Sep 29. doi: 10.59249/RLAU6003

PMCID:: PMC10524810

Abstract Article PDF–1.8M

Select item 102036112.

Tibial plateau fracture and RNA sequencing with osteogenesis imperfecta: a case report

Yixiao Chen, Guoqing Li, Liangchen Wei, Jian Weng, Su Liu, Mingxi Gu, Pei Liu, Yuanchao Zhu, Ao Xiong, Hui Zeng, Fei Yu

Front Endocrinol (Lausanne) 2023; 14: 1164386. Published online 2023 May 9. doi: 10.3389/fendo.2023.1164386

PMCID:: PMC10203611

Abstract Article PDF–5.2M

Select item 99514073.

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum

Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji

BMC Med Genomics. 2023; 16: 33. Published online 2023 Feb 24. doi: 10.1186/s12920-023-01467-1

PMCID:: PMC9951407

Abstract Article PDF–2.0M

Select item 10155574.

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 3785485.

Evidence That Smith-McCort Dysplasia and Dyggve-Melchior-Clausen Dysplasia Are Allelic Disorders That Result from Mutations in a Gene on Chromosome 18q12

Nadia Ehtesham, Rita M. Cantor, Lily M. King, Kent Reinker, Berkley R. Powell, Alan Shanske, Sheila Unger, David L. Rimoin, Daniel H. Cohn

Am J Hum Genet. 2002 Oct; 71(4): 947–951. Published online 2002 Aug 2. doi: 10.1086/342669

PMCID:: PMC378548

Abstract Article PDF–107K

Select item 111948726.

Bronchobiliary fistula after traumatic liver rupture: a case report

Teng Zhou, Wenming Wu, Chao Cheng, Hui Wang, Xiaochuan Hu, Zhenhui Jiang

J Med Case Rep. 2024; 18: 289. Published online 2024 Jun 24. doi: 10.1186/s13256-024-04620-1

PMCID:: PMC11194872

Abstract Article PDF–1.1M

Select item 110600197.

Novelty of Physiotherapy Management in a Classic Case of Chronic Obstructive Pulmonary Disease in an 84-Year-Old Male Patient with Hypertension and Well-Controlled Hypothyroidism: A Case Report

Radha Nangliya, Vaishnavi Yadav, Sojwal P Nandanwar

Cureus. 2024 Mar; 16(3): e57318. Published online 2024 Mar 31. doi: 10.7759/cureus.57318

PMCID:: PMC11060019

Abstract Article PDF–222K

Select item 108548238.

The Differences in Radiographic Vertebral Size in Dogs with Different Chest and Skull Types

Amonsiri Phansangiemjit, Kamolphatra Kasemjiwat, Krit Patchanee, Yossapat Panninvong, Ana Sunisarud, Nan Choisunirachon, Chutimon Thanaboonnipat

Animals (Basel) 2024 Feb; 14(3): 470. Published online 2024 Jan 31. doi: 10.3390/ani14030470

PMCID:: PMC10854823

Abstract Article PDF–1.6M

Select item 74767089.

X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India

Parag M Tamhankar, Abhishek Kulkarni, Lakshmi Vasudevan

J Orthop Case Rep. 2020; 10(2): 1–4. doi: 10.13107/jocr.2020.v10.i02.1670

PMCID:: PMC7476708

Abstract Article PDF–1.2M

Select item 675017210.

Late diagnosis of total anomalous pulmonary venous drainage in a 5.5-month-old infant

Wojciech Mądry, Maciej A. Karolczak, Weronika Rygier, Radosław Kunikowski, Michał Buczyński, Danuta Roik

J Ultrason. 2019; 19(76): 75–79. Published online 2019 Mar 29. doi: 10.15557/JoU.2019.0012

PMCID:: PMC6750172

Abstract Article PDF–670K

Select item 633079811.

Physical signs in patients with chronic obstructive pulmonary disease

Malay Sarkar, Rajeev Bhardwaz, Irappa Madabhavi, Mitul Modi

Lung India. 2019 Jan-Feb; 36(1): 38–47. doi: 10.4103/lungindia.lungindia_145_18

PMCID:: PMC6330798

Abstract Article PDF–565K

Select item 519228212.

Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder

Sarvesh Kumar Singh, Kshipra Rajoria

J Ayurveda Integr Med. 2016 Oct-Dec; 7(4): 249–254. Published online 2016 Nov 25. doi: 10.1016/j.jaim.2016.10.002

PMCID:: PMC5192282

Abstract Article PDF–1.2M

Select item 214673213.

Asthma and chronic bronchitis. Can family physicians predict rates of progression?

C. P. van Schayck, E. Dompeling, R. Putters, J. Molema, C. van Weel

Can Fam Physician. 1995 Nov; 41: 1868–1876.

PMCID:: PMC2146732

Summary Page Browse PDF–2.1M

Select item 164741014.

Chest Deformity, Residual Airways Obstruction and Hyperinflation, and Growth in Children with Asthma: II: Significance of Chronic Chest Deformity

G. L. Gillam, K. N. McNicol, H. E. Williams

Arch Dis Child. 1970 Dec; 45(244): 789–799. doi: 10.1136/adc.45.244.789

PMCID:: PMC1647410

Summary Page Browse PDF–1.8M

Supplemental Content

Filter your results:

All (14)
NIH grants (1)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 120497) (14)
PMC
Homo sapiens cDNA PSEC0258 fis, clone NT2RP3003731
Homo sapiens cDNA PSEC0258 fis, clone NT2RP3003731
gi|22761783|dbj|AK075558.1|

Nucleotide
Barrel-shaped chest
Barrel-shaped chest

MedGen
C0264172[conceptid] (1)
MedGen
CornaVIR_3 (0)
Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: