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Items: 1 to 20 of 500

1.
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Eduardo Perrone, Vânia D’Almeida, Nara Lygia de Macena Sobreira, Claudia Berlim de Mello, Allan Chiaratti de Oliveira, Stênio Burlin, Maria de Fátima de Faria Soares, Mirlene Cecília Soares Pinho Cernach, Ana Beatriz Alvarez Perez
Am J Med Genet A. Author manuscript; available in PMC 2022 Apr 7.
Published in final edited form as: Am J Med Genet A. 2020 Jul; 182(7): 1761–1766. Published online 2020 Apr 17. doi: 10.1002/ajmg.a.61594
PMCID:
PMC8988015
ArticlePubReaderPDF–312KCite
2.
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature
Bakur Kotetishvili, Malkhaz Makashvili, Michael Okujava, Alexandre Kotetishvili, Tamar Kopadze
Intractable Rare Dis Res. 2018 Aug; 7(3): 191–195. doi: 10.5582/irdr.2018.01062
PMCID:
PMC6119670
ArticlePubReaderPDF–824KCite
3.
Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent
Anita Choudhary, Priyanka Minocha, Sadasivan Sitaraman
Intractable Rare Dis Res. 2017 Feb; 6(1): 58–60. doi: 10.5582/irdr.2016.01074
PMCID:
PMC5359355
ArticlePubReaderPDF–444KCite
4.
Beyond Gómez-López-Hernández Syndrome: Recurring Phenotypic Themes in Rhombencephalosynapsis
Hannah M Tully, Jennifer C Dempsey, Gisele E Ishak, Margaret P Adam, Cynthia JR Curry, Pedro Sanchez-Lara, Alasdair Hunter, Karen W Gripp, Judith Allanson, Christopher Cunniff, Ian Glass, Kathleen J Millen, Daniel Doherty, William B Dobyns
Am J Med Genet A. Author manuscript; available in PMC 2013 Oct 1.
Published in final edited form as: Am J Med Genet A. 2012 Oct; 158A(10): 2393–2406. Published online 2012 Sep 10. doi: 10.1002/ajmg.a.35561
PMCID:
PMC3448816
ArticlePubReaderPDF–1.4MCite
5.
The new genomic medicine service and implications for patients 
Katie Snape, Sarah Wedderburn, Julian Barwell
Clin Med (Lond) 2019 Jul; 19(4): 273–277. doi: 10.7861/clinmedicine.19-4-273
PMCID:
PMC6752257
ArticlePubReaderPDF–177KCite
6.
Genetic Analysis of the Caenorhabditis elegans GLH Family of P-Granule Proteins
Caroline Spike, Nicole Meyer, Erica Racen, April Orsborn, Jay Kirchner, Kathleen Kuznicki, Christopher Yee, Karen Bennett, Susan Strome
Genetics. 2008 Apr; 178(4): 1973–1987. doi: 10.1534/genetics.107.083469
PMCID:
PMC2323790
ArticlePubReaderPDF–952KCite
7.
Multiple potential germ-line helicases are components of the germ-line-specific P granules of Caenorhabditis elegans
M. E. Gruidl, P. A. Smith, K. A. Kuznicki, J. S. McCrone, J. Kirchner, D. L. Roussell, S. Strome, K. L. Bennett
Proc Natl Acad Sci U S A. 1996 Nov 26; 93(24): 13837–13842. doi: 10.1073/pnas.93.24.13837
PMCID:
PMC19442
ArticlePubReaderPDF–533KCite
8.
Molecular Testing in Ovarian Tumours: Challenges from the Pathologist’s Perspective
Kate Dinneen, Rupali Arora
Diagnostics (Basel) 2023 Jun; 13(12): 2072. Published online 2023 Jun 15. doi: 10.3390/diagnostics13122072
PMCID:
PMC10297009
ArticlePubReaderPDF–1.1MCite
9.
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group
Olivia Boyer, Franz Schaefer, Dieter Haffner, Detlef Bockenhauer, Tuula Hölttä, Sandra Bérody, Hazel Webb, Marie Heselden, Beata S. Lipska-Zie˛tkiewicz, Fatih Ozaltin, Elena Levtchenko, Marina Vivarelli
Nat Rev Nephrol. 2021; 17(4): 277–289. Published online 2021 Jan 29. doi: 10.1038/s41581-020-00384-1
Correction in:
Nat Rev Nephrol. 2021; 17(6): 434.
PMCID:
PMC8128706
ArticlePubReaderPDF–1.4MCite
10.
Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening
Seung-Ah Choe, Hyun-Joo Seol, Ji Young Kwon, Chan-Wook Park, Minhyoung Kim, Ji Yeon Lee, Min-A Kim, Han-Sung Hwang, Sunghun Na, Jae-Yoon Shim, Kunwoo Kim, Hyun Mee Ryu
J Korean Med Sci. 2021 Jan 25; 36(4): e27. Published online 2021 Jan 8. doi: 10.3346/jkms.2021.36.e27
PMCID:
PMC7834900
ArticlePubReaderPDF–2.4MCite
11.
Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service
Melissa Hill, Sian Ellard, Jane Fisher, Naomi Fulop, Marian Knight, Mark Kroese, Jean Ledger, Kerry Leeson-Beevers, Alec McEwan, Dominic McMullan, Rhiannon Mellis, Stephen Morris, Michael Parker, Dagmar Tapon, Emma Baple, Laura Blackburn, Asya Choudry, Caroline Lafarge, Hannah McInnes-Dean, Michelle Peter, Rema Ramakrishnan, Lauren Roberts, Beverly Searle, Emma Smith, Holly Walton, Sarah L. Wynn, Wing Han Wu, Lyn S. Chitty
Version 2. NIHR Open Res. 2022; 2: 10. Published online 2022 Jul 18. doi: 10.3310/nihropenres.13247.2
PMCID:
PMC7613246
ArticlePubReaderPDF–913KCite
12.
Diagnosis of rhomboencephalosynapsis by MRI in a 5-year-old child
Nathalia Tafur Gómez, William Prada Mancilla, Carlos Hernán Roa Mejía, Juan Carlos Aldana Leal
Radiol Case Rep. 2020 Jul; 15(7): 867–870. Published online 2020 May 1. doi: 10.1016/j.radcr.2020.04.015
PMCID:
PMC7200622
ArticlePubReaderPDF–1.1MCite
13.
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity
Gisele E. Ishak, Jennifer C. Dempsey, Dennis W. W. Shaw, Hannah Tully, Margaret P. Adam, Pedro A. Sanchez-Lara, Ian Glass, Tessa C. Rue, Kathleen J. Millen, William B. Dobyns, Dan Doherty
Brain. 2012 May; 135(5): 1370–1386. Published online 2012 Mar 26. doi: 10.1093/brain/aws065
PMCID:
PMC3338925
ArticlePubReaderPDF–812KCite
14.
The genetic landscape of cardiovascular left–right patterning defects
John R Wells, Maria B Padua, Stephanie M Ware
Curr Opin Genet Dev. Author manuscript; available in PMC 2023 Dec 6.
Published in final edited form as: Curr Opin Genet Dev. 2022 Aug; 75: 101937. Published online 2022 Jun 28. doi: 10.1016/j.gde.2022.101937
PMCID:
PMC10698510
ArticlePubReaderPDF–559KCite
15.
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Lijun Liu, Chanchan Hu, Zhenjie Chen, Shuzhen Zhu, Lvchang Zhu
Am J Case Rep. 2023; 24: e942377-1–e942377-10. Published online 2023 Nov 29. doi: 10.12659/AJCR.942377
PMCID:
PMC10697549
ArticlePubReaderPDF–1.3MCite
16.
A novel case of 16q22.3 duplication syndrome in a child with overgrowth: case report and literature review
Antonino Moschella, Anna Paola Capra, Domenico Corica, Giorgia Pepe, Silvia Di Tommaso, Ester Sallicandro, Malgorzata G. Wasniewska, Silvana Briuglia, Tommaso Aversa
BMC Med Genomics. 2023; 16: 315. Published online 2023 Dec 4. doi: 10.1186/s12920-023-01716-3
PMCID:
PMC10696707
ArticlePubReaderPDF–1.5MCite
17.
Genome mining yields putative disease-associated ROMK variants with distinct defects
Nga H. Nguyen, Srikant Sarangi, Erin M. McChesney, Shaohu Sheng, Jacob D. Durrant, Aidan W. Porter, Thomas R. Kleyman, Zachary W. Pitluk, Jeffrey L. Brodsky
PLoS Genet. 2023 Nov; 19(11): e1011051. Published online 2023 Nov 13. doi: 10.1371/journal.pgen.1011051
PMCID:
PMC10695394
ArticlePubReaderPDF–3.7MCite
18.
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine
Wenyan Zhang, Ziming Yao, Ruolan Guo, Jun Cao, Wei Li, Chanjuan Hao, Xuejun Zhang
Orphanet J Rare Dis. 2023; 18: 371. Published online 2023 Nov 30. doi: 10.1186/s13023-023-02975-0
PMCID:
PMC10691085
ArticlePubReaderPDF–1.5MCite
19.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome
Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp
Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799
PMCID:
PMC10690702
ArticlePubReaderPDF–487KCite
20.
Epileptic seizures worsen the gait and motor abnormalities in adult patients with Dravet syndrome (with a case report and literature review)
Xiaoping Du, Shizhong Lian, Meizhen Sun, Ruilong Li, Huifang Wang, Xiaoping Yang, Huifen Wang, Xiaobin Zhang, Fengpeng Wang, Yi Yao, Junhong Guo
Epilepsia Open. 2023 Dec; 8(4): 1576–1580. Published online 2023 Oct 6. doi: 10.1002/epi4.12780
PMCID:
PMC10690644
ArticlePubReaderPDF–669KCite

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