PMC Articles for MedGen (Select 334684) - PMC

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

Abstract Article PDF–310K

Select item 17347534.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

L Faivre, M Le Merrer, C Baumann, M Polak, P Chatelain, V Sulmont, J Cousin, M Bost, M Cordier, E Zackai, K Russell, G Finidori, J Pouliquen, A Munnich, P Maroteaux, V Cormier-Daire

J Med Genet. 2001 Nov; 38(11): 745–749. doi: 10.1136/jmg.38.11.745

PMCID:: PMC1734753

Summary PDF–222K

Select item 14537645.

SVARAP and aSVARAP: simple tools for quantitative analysis of nucleotide and amino acid variability and primer selection for clinical microbiology

Philippe Colson, Catherine Tamalet, Didier Raoult

BMC Microbiol. 2006; 6: 21. Published online 2006 Mar 3. doi: 10.1186/1471-2180-6-21

PMCID:: PMC1453764

Abstract Article PDF–328K

Select item 12340946.

Comparative Evaluation of Three Commercial Systems for Nucleic Acid Extraction from Urine Specimens

Yi-Wei Tang, Susan E. Sefers, Haijing Li, Debra J. Kohn, Gary W. Procop

J Clin Microbiol. 2005 Sep; 43(9): 4830–4833. doi: 10.1128/JCM.43.9.4830-4833.2005

Correction in:: J Clin Microbiol. 2005 Nov; 43(11): 5833.

PMCID:: PMC1234094

Abstract Article PDF–52K

Select item 37546237.

Evaluation of a New Automated Homogeneous PCR Assay, GenomEra C. difficile, for Rapid Detection of Toxigenic Clostridium difficile in Fecal Specimens

Jari J. Hirvonen, Silja Mentula, Suvi-Sirkku Kaukoranta

J Clin Microbiol. 2013 Sep; 51(9): 2908–2912. doi: 10.1128/JCM.01083-13

PMCID:: PMC3754623

Abstract Article PDF–146K

Select item 62459088.

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature

Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi

Ital J Pediatr. 2018; 44: 138. Published online 2018 Nov 20. doi: 10.1186/s13052-018-0580-z

PMCID:: PMC6245908

Abstract Article PDF–1.9M

Select item 62339599.

Efficient Production of On-Target Reads for Small RNA Sequencing of Single Cells Using Modified Adapters

Ruba Khnouf, Sabrina Shore, Crystal M. Han, Jordana M. Henderson, Sarah A. Munro, Anton P. McCaffrey, Hirofumi Shintaku, Juan G. Santiago

Anal Chem. 2018 Nov 6; 90(21): 12609–12615. Published online 2018 Sep 27. doi: 10.1021/acs.analchem.8b02773

PMCID:: PMC6233959

Abstract Article PDF–1.8M

Select item 105048210.

A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?

A N Akarsu, O Akhan, B S Sayli, U Sayli, G Baskaya, M Sarfarazi

J Med Genet. 1995 Jun; 32(6): 435–441. doi: 10.1136/jmg.32.6.435

PMCID:: PMC1050482

Summary Page Browse PDF–2.3M

Select item 101698211.

Interstitial deletion of chromosome 13: prognosis and adult phenotype.

J C Dean, S Simpson, D A Couzin, G S Stephen

J Med Genet. 1991 Aug; 28(8): 533–535. doi: 10.1136/jmg.28.8.533

PMCID:: PMC1016982

Summary Page Browse PDF–556K

Select item 513566112.

Two Patients with Severe Short Stature due to a FBN1 mutation (p.Ala1728Val) with a mild form of Acromicric Dysplasia

Christiaan de Bruin, Courtney Finlayson, Mariana F.A. Funari, Gabriela A. Vasques, Bruna Lucheze Freire, Antonio M. Lerario, Melissa Andrew, Vivian Hwa, Andrew Dauber, Alexander A L Jorge

Horm Res Paediatr. Author manuscript; available in PMC 2017 Jun 2.

Published in final edited form as: Horm Res Paediatr. 2016; 86(5): 342–348. Published online 2016 Jun 2. doi: 10.1159/000446476

PMCID:: PMC5135661

Abstract Article PDF–1.9M

Select item 1147092013.

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome

Kevin Perge, Emilie Capel, Valérie Senée, Cécile Julier, Corinne Vigouroux, Marc Nicolino

Rev Endocr Metab Disord. 2024; 25(5): 827–838. Published online 2024 Jul 17. doi: 10.1007/s11154-024-09894-w

PMCID:: PMC11470920

Abstract Article PDF–902K

Select item 101324014.

Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome.

N C Magnelli, E Therman

J Med Genet. 1975 Mar; 12(1): 105–108. doi: 10.1136/jmg.12.1.105

PMCID:: PMC1013240

Summary Page Browse PDF–1002K

Select item 398490115.

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

Pasquale Piccolo, Pratibha Mithbaokar, Valeria Sabatino, John Tolmie, Daniela Melis, Maria Cristina Schiaffino, Mirella Filocamo, Generoso Andria, Nicola Brunetti-Pierri

Eur J Hum Genet. 2014 Aug; 22(8): 988–994. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.283

PMCID:: PMC3984901

Abstract Article PDF–4.2M

Select item 101646616.

Mild phenotypic manifestation of a 7p15.3p21.2 deletion.

C Wang, S Maynard, T W Glover, L G Biesecker

J Med Genet. 1993 Jul; 30(7): 610–612. doi: 10.1136/jmg.30.7.610

PMCID:: PMC1016466

Summary Page Browse PDF–590K

Select item 1043380417.

Comparison between the Roche Cobas 4800 Human Papillomavirus (HPV), Abbott RealTime High-Risk HPV, Seegene Anyplex II HPV28, and Novel Seegene Allplex HPV28 Assays for High-Risk HPV Detection and Genotyping in Mocked Self-Samples

Margo Bell, Bo Verberckmoes, Janne Devolder, Heleen Vermandere, Olivier Degomme, Yasmin Medeiros Guimarães, Luani Rezende Godoy, Elena Ambrosino, Piet Cools, Elizaveta Padalko

Microbiol Spectr. 2023 Jul-Aug; 11(4): e00081-23. Published online 2023 Jun 7. doi: 10.1128/spectrum.00081-23

PMCID:: PMC10433804

Abstract Article PDF–449K

Select item 581486718.

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

Marianna Alagia, Gerarda Cappuccio, Michele Pinelli, Annalaura Torella, Raffaella Brunetti‐Pierri, Francesca Simonelli, Giuseppe Limongelli, Guido Oppido, Vincenzo Nigro, Nicola Brunetti‐Pierri, TUDP

Am J Med Genet A. 2018 Feb; 176(2): 426–430. Published online 2017 Dec 12. doi: 10.1002/ajmg.a.38560