PMC Articles for MedGen (Select 324419) - PMC

Christopher W. Walmsley, Peter D. Smits, Michelle R. Quayle, Matthew R. McCurry, Heather S. Richards, Christopher C. Oldfield, Stephen Wroe, Phillip D. Clausen, Colin R. McHenry

PLoS One. 2013; 8(1): e53873. Published online 2013 Jan 16. doi: 10.1371/journal.pone.0053873

PMCID:: PMC3547052

Abstract Article PDF–7.6M

Select item 38818659.

Prevalence of long face pattern in Brazilian individuals of different ethnic backgrounds

Mauricio de Almeida CARDOSO, Renata Cristina Faria Ribeiro de CASTRO, Tien LI AN, David NORMANDO, Daniela Gamba GARIB, Leopoldino CAPELOZZA FILHO

J Appl Oral Sci. 2013 Mar-Apr; 21(2): 150–156. doi: 10.1590/1678-7757201302270

PMCID:: PMC3881865

Abstract Article PDF–1.0M

Select item 105136910.

The fragile X syndrome.

B B de Vries, D J Halley, B A Oostra, M F Niermeijer

J Med Genet. 1998 Jul; 35(7): 579–589. doi: 10.1136/jmg.35.7.579

PMCID:: PMC1051369

Summary Page Browse PDF–2.8M

Select item 929792811.

Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

Marianna Farnè, Laura Bernardini, Anna Capalbo, Giusy Cavarretta, Barbara Torres, Mariabeatrice Sanchini, Sergio Fini, Alessandra Ferlini, Stefania Bigoni

Am J Med Genet A. 2022 Feb; 188(2): 692–707. Published online 2021 Oct 19. doi: 10.1002/ajmg.a.62536

PMCID:: PMC9297928

Abstract Article PDF–2.1M

Select item 886792812.

Grouping patients for masseter muscle genotype-phenotype studies

Hadwah Abdelmatloub Moawad, Andrea C. M. Sinanan, Mark P. Lewis, Nigel P. Hunt

Angle Orthod. 2012 Mar; 82(2): 261–266. Published online 2011 Aug 22. doi: 10.2319/122810-750.1

PMCID:: PMC8867928

Abstract Article PDF–103K

Select item 860620413.

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Pouria Mohammadi, Elham Salehi Siavashani, Mohammad Farid Mohammadi, Afshin Bahramy, Navid Almadani, Masoud Garshasbi

Mol Genet Genomic Med. 2021 Nov; 9(11): e1834. Published online 2021 Oct 12. doi: 10.1002/mgg3.1834

PMCID:: PMC8606204

Abstract Article PDF–962K

Select item 750320914.

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe‐Hatano, Kenji Kurosawa, Kenjiro Kosaki

Mol Genet Genomic Med. 2020 Sep; 8(9): e1364. Published online 2020 Jun 26. doi: 10.1002/mgg3.1364

PMCID:: PMC7503209

Abstract Article PDF–691K

Select item 525596215.

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck-Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M Strom, Hermann-Josef Lüdecke, Dagmar Wieczorek

Eur J Hum Genet. 2017 Feb; 25(2): 183–191. Published online 2016 Nov 30. doi: 10.1038/ejhg.2016.165

PMCID:: PMC5255962

Abstract Article PDF–650K

Select item 435038616.

Fragile X Syndrome

Wilmar Saldarriaga, Flora Tassone, Laura Yuriko González-Teshima, Jose Vicente Forero-Forero, Sebastián Ayala-Zapata, Randi Hagerman

Colomb Med (Cali) 2014 Oct-Dec; 45(4): 190–198. Published online 2014 Dec 30.

PMCID:: PMC4350386

Abstract Article PDF–790K

Select item 337648717.

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

Lia Abbasi-Moheb, Sara Mertel, Melanie Gonsior, Leyla Nouri-Vahid, Kimia Kahrizi, Sebahattin Cirak, Dagmar Wieczorek, M. Mahdi Motazacker, Sahar Esmaeeli-Nieh, Kirsten Cremer, Robert Weißmann, Andreas Tzschach, Masoud Garshasbi, Seyedeh S. Abedini, Hossein Najmabadi, H. Hilger Ropers, Stephan J. Sigrist, Andreas W. Kuss

Am J Hum Genet. 2012 May 4; 90(5): 847–855. doi: 10.1016/j.ajhg.2012.03.021

PMCID:: PMC3376487

Abstract Article PDF–567K

Select item 307157018.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée, B Grisart, L Rooms, N Van der Aa, M Field, A Hackett, K Bell, M J M Nowaczyk, G M S Mancini, P J Poddighe, C E Schwartz, E Rossi, M De Gregori, L L Antonacci-Fulton, M D McLellan, II, J M Garrett, M A Wiechert, T L Miner, S Crosby, R Ciccone, L Willatt, A Rauch, M Zenker, S Aradhya, M A Manning, T M Strom, J Wagenstaller, A C Krepischi-Santos, A M Vianna-Morgante, C Rosenberg, S M Price, H Stewart, C Shaw-Smith, H G Brunner, A O M Wilkie, J A Veltman, O Zuffardi, E E Eichler, B B A de Vries

J Med Genet. Author manuscript; available in PMC 2011 Apr 6.

Published in final edited form as: J Med Genet. 2008 Nov; 45(11): 710–720. Published online 2008 Jul 15. doi: 10.1136/jmg.2008.058701

Correction in:: J Med Genet, volume 46 on page 576

PMCID:: PMC3071570

Abstract Article PDF–1.7M

Select item 105170919.

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

Bruno Dallapiccola, Rita Mingarelli

J Med Genet. 1995 Oct; 32(10): 816–818. doi: 10.1136/jmg.32.10.816

PMCID:: PMC1051709

Summary Page Browse PDF–1.1M

Select item 173438720.

Screening for the fragile X syndrome among the mentally retarded: a clinical study

B. B A de Vries, S. Mohkamsing, A. M W van den Ouweland, E. Mol, K. Gelsema, M. van Rijn, A. Tibben, D. Halley, H. Duivenvoorden, B. Oostra, M. Niermeijer

J Med Genet. 1999 Jun; 36(6): 467–470.

PMCID:: PMC1734387

Summary PDF–110K

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