PMC Articles for MedGen (Select 65142) - PMC

Links from MedGen

Items: 1 to 20 of 61

<< First< Prev

Page of 4

Next >Last >>

Select item 57288441.

Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report

Dongyi Yu, Shuo Li, Qi Liu, Kai Zhang

Medicine (Baltimore) 2017 Dec; 96(49): e8729. Published online 2017 Dec 8. doi: 10.1097/MD.0000000000008729

PMCID:: PMC5728844

Article PDF–492K

Select item 33587762.

Displacement of Brain Regions in Preterm Infants with Non-Synostotic Dolichocephaly Investigated by MRI

Andrea U.J. Mewes, Lilla Zöllei, Petra S. Hüppi, Heidelise Als, Gloria McAnulty, Terrie E. Inder, William M. Wells, Simon K. Warfield

Neuroimage. Author manuscript; available in PMC 2012 May 23.

Published in final edited form as: Neuroimage. 2007 Jul 15; 36(4): 1074–1085. Published online 2007 Apr 18. doi: 10.1016/j.neuroimage.2007.04.011

PMCID:: PMC3358776

Article PDF–966K

Select item 109477333.

SOFT syndrome with Kohlschutter–Tonz syndrome

SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar

J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22

PMCID:: PMC10947733

Article

Select item 105248104.

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

Article PDF–1.8M

Select item 101380055.

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing

Olga E. Talantova, Alla S. Koltsova, Andrei V. Tikhonov, Anna A. Pendina, Olga V. Malysheva, Olga A. Tarasenko, Elena S. Vashukova, Elena S. Shabanova, Arina V. Golubeva, Olga G. Chiryaeva, Andrey S. Glotov, Olesya N. Bespalova, Olga A. Efimova

Genes (Basel) 2023 Apr; 14(4): 913. Published online 2023 Apr 14. doi: 10.3390/genes14040913

PMCID:: PMC10138005

Article PDF–1.3M

Select item 100483196.

Head Size in Phelan–McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13

Sara M. Sarasua, Jane M. DeLuca, Curtis Rogers, Katy Phelan, Lior Rennert, Kara E. Powder, Katherine Weisensee, Luigi Boccuto

Genes (Basel) 2023 Mar; 14(3): 540. Published online 2023 Feb 21. doi: 10.3390/genes14030540

PMCID:: PMC10048319

Article PDF–2.7M

Select item 86062047.

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

Article PDF–962K

Select item 80344628.

Polycystin‐1 modulates RUNX2 activation and osteocalcin gene expression via ERK signalling in a human craniosynostosis cell model

Maira Katsianou, Kostas A. Papavassiliou, Ilianna Zoi, Antonios N. Gargalionis, Dimitrios Panagopoulos, Marios S. Themistocleous, Christina Piperi, Athanasios G. Papavassiliou, Efthimia K. Basdra

J Cell Mol Med. 2021 Apr; 25(7): 3216–3225. Published online 2021 Mar 3. doi: 10.1111/jcmm.16391

PMCID:: PMC8034462

Article PDF–905K

Select item 69951389.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

Joanna Walczak-Sztulpa, Renata Posmyk, Ewelina M. Bukowska-Olech, Anna Wawrocka, Aleksander Jamsheer, Machteld M. Oud, Miriam Schmidts, Heleen H. Arts, Anna Latos-Bielenska, Anna Wasilewska

Orphanet J Rare Dis. 2020; 15: 36. Published online 2020 Feb 1. doi: 10.1186/s13023-020-1303-2

PMCID:: PMC6995138

Article PDF–1.2M

Select item 682159210.

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T. Morgan, David J. Amor, Matej Skorvanek, Tahir N. Khan, Michael S. Hildebrand, Victoria E. Jackson, Thomas S. Scerri, Matthew Coleman, Kristin A. Rigbye, Ingrid E. Scheffer, Melanie Bahlo, Matias Wagner, Daniel D. Lam, Riccardo Berutti, Petra Havránková, Anna Fečíková, Tim M. Strom, Vladimir Han, Petra Dosekova, Zuzana Gdovinova, Franco Laccone, Muhammad Jameel, Marie R. Mooney, Shahid M. Baig, Robert Jech, Erica E. Davis, Nicholas Katsanis, Juliane Winkelmann

Genet Med. Author manuscript; available in PMC 2019 Nov 8.

Published in final edited form as: Genet Med. 2019 Nov; 21(11): 2532–2542. Published online 2019 Apr 30. doi: 10.1038/s41436-019-0523-0

PMCID:: PMC6821592

Article PDF–1.3M

Select item 598566611.

Anthropometric study with emphasis on hand and foot measurements in the Prader-Willi syndrome: sex, age and chromosome effects

Merlin G. Butler, Judy L. Haynes, F. John Meaney

Clin Genet. Author manuscript; available in PMC 2018 Jun 4.

Published in final edited form as: Clin Genet. 1991 Jan; 39(1): 39–47. doi: 10.1111/j.1399-0004.1991.tb02983.x

PMCID:: PMC5985666

Article PDF–687K

Select item 549503012.

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

Margot A. Cousin, Michael T. Zimmermann, Angela J. Mathison, Patrick R. Blackburn, Nicole J. Boczek, Gavin R. Oliver, Gwen A. Lomberk, Raul A. Urrutia, David R. Deyle, Eric W. Klee

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001727. doi: 10.1101/mcs.a001727

PMCID:: PMC5495030

Article PDF–1.7M

Select item 406981413.

Neonatal Marfan syndrome: a successful early multidisciplinary approach

Marta Amado, Maria Angelina Calado, Rui Ferreira, Teresa Lourenço

BMJ Case Rep. 2014; 2014: bcr2013202438. Published online 2014 Jun 13. doi: 10.1136/bcr-2013-202438

PMCID:: PMC4069814

Article PDF–611K

Select item 392300714.

A coalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5

Danijela Krgovic, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj Vokac

BMC Med Genet. 2014; 15: 21. Published online 2014 Feb 11. doi: 10.1186/1471-2350-15-21

PMCID:: PMC3923007

Article PDF–1.5M

Select item 301423315.

CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene

D.-H. Chen, Y. Sul, M. Weiss, A. Hillel, H. Lipe, J. Wolff, M. Matsushita, W. Raskind, T. Bird

Neurology. 2010 Nov 30; 75(22): 1968–1975. doi: 10.1212/WNL.0b013e3181ffe4bb

PMCID:: PMC3014233

Article PDF–1.0M

Select item 168580316.

Duplication 9q34 syndrome.

P W Allderdice, B Eales, H Onyett, W Sprague, K Henderson, P A Lefeuvre, G Pal

Am J Hum Genet. 1983 Sep; 35(5): 1005–1019.

PMCID:: PMC1685803

Summary Page Browse PDF–2.5M

Select item 123530117.

Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

Maria Clara Bonaglia, Roberto Giorda, Renato Borgatti, Giorgio Felisari, Chiara Gagliardi, Angelo Selicorni, Orsetta Zuffardi

Am J Hum Genet. 2001 Aug; 69(2): 261–268. Published online 2001 Jun 18. doi: 10.1086/321293

PMCID:: PMC1235301

Article PDF–356K

Select item 105146918.

Triophthalmia and facial clefting: a case report.

S M Tayel, M A Sabry, N A Kader, S Farah, S A Al-Awadi, T I Farag

J Med Genet. 1998 Oct; 35(10): 875–877. doi: 10.1136/jmg.35.10.875

PMCID:: PMC1051469

Summary Page Browse PDF–708K

Select item 104930419.

Deletion of the short arm of chromosome 3: a case report with necropsy findings.

D Beneck, M J Suhrland, R Dicker, M A Greco, S R Wolman

J Med Genet. 1984 Aug; 21(4): 307–310. doi: 10.1136/jmg.21.4.307

PMCID:: PMC1049304

Summary Page Browse PDF–712K

Select item 1096045720.

Family case of Potocki-Lupski syndrome

L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko, L. D. Belotserkovtseva

Mol Cytogenet. 2024; 17: 6. Published online 2024 Mar 22. doi: 10.1186/s13039-024-00673-5

PMCID:: PMC10960457

Article PDF–1.2M

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 61

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity