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Select item 106897651.

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Siren Berland, Angus J. Clarke, Sally J. Davies, Sian Corrin, Oliver Murch, Samantha Doyle, Gail E. Graham, Lynn Greenhalgh, Susan E. Holder, Diana Johnson, Ajith Kumar, Roger L. Ladda, Susan Sell, Amber Begtrup, Sally A. Lynch, Emma McCann, Rune Østern, Caroline Pottinger, Miranda Splitt, Andrew E. Fry

Eur J Hum Genet. 2023 Dec; 31(12): 1421–1429. Published online 2023 Sep 14. doi: 10.1038/s41431-023-01447-0

PMCID:: PMC10689765

Article PDF–2.1M

Select item 106060932.

Altered Transcript Levels of MMP13 and VIT Genes in the Muscle and Connective Tissue of Pigs with Umbilical Hernia

Jakub Wozniak, Weronika Loba, Alicja Wysocka, Stanislaw Dzimira, Przemyslaw Przadka, Marek Switonski, Joanna Nowacka-Woszuk

Genes (Basel) 2023 Oct; 14(10): 1903. Published online 2023 Oct 1. doi: 10.3390/genes14101903

PMCID:: PMC10606093

Article PDF–1.1M

Select item 105770833.

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

Florence Petit, Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart, Hannah T.M. Contreras, Frederic Frénois, Barbara R. Pober, Robin D. Clark, Philip F. Giampietro, Hilger H. Ropers, Hao Hu, Maria Loscertales, Richard Wagner, Xingbin Ai, Harrison Brand, Anne-Sophie Jourdain, Marie-Ange Delrue, Brigitte Gilbert-Dussardier, Louise Devisme, Boris Keren, David J. McCulley, Lu Qiao, Rebecca Hernan, Julia Wynn, Tiana M. Scott, Daniel G. Calame, Zeynep Coban-Akdemir, Patricia Hernandez, Andres Hernandez-Garcia, Hagith Yonath, James R. Lupski, Yufeng Shen, Wendy K. Chung, Daryl A. Scott, Carol J. Bult, Patricia K. Donahoe, Frances A. High

Am J Hum Genet. 2023 Oct 5; 110(10): 1787–1803. Published online 2023 Sep 25. doi: 10.1016/j.ajhg.2023.09.002

PMCID:: PMC10577083

Article PDF–4.4M

Select item 101001704.

A thrombophilic allele of clotting Factor VII/VIIa promoting recurrent pulmonary emboli, clinical details, and a structural model of the altered protein: a case report

Kenneth Newman, Fevzi Daldal, Andrew Dancis

J Med Case Rep. 2023; 17: 161. Published online 2023 Apr 13. doi: 10.1186/s13256-023-03833-0

PMCID:: PMC10100170

Article PDF–4.7M

Select item 100349545.

MNX1 mutations causing neonatal diabetes: Review of the literature and report of a case with extra‐pancreatic congenital defects presenting in severe diabetic ketoacidosis

Hanan Hassan Aly, Elisa De Franco, Sarah E. Flanagan, Yasmine I. Elhenawy

J Diabetes Investig. 2023 Apr; 14(4): 516–521. Published online 2022 Dec 31. doi: 10.1111/jdi.13968

PMCID:: PMC10034954

Article PDF–253K

Select item 95599066.

Focal Dermal Hypoplasia with Osteopathia Striata

Shefa S. Almashaqbeh, Diana S. Aljammal, Hend M. Alharahsheh, Samer F. Alqudah, Rana A. Alkrimeen

Med Arch. 2022 Aug; 76(4): 301–304. doi: 10.5455/medarh.2022.76.301-304

PMCID:: PMC9559906

Article PDF–277K

Select item 95314407.

2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report

Sebastian Giraldo-Ocampo, Harry Pachajoa

BMC Pediatr. 2022; 22: 569. Published online 2022 Oct 4. doi: 10.1186/s12887-022-03620-8

PMCID:: PMC9531440

Article PDF–843K

Select item 92358428.

Expanding the phenotype of ATP6AP1 deficiency

Subit Barua, Sara Berger, Elaine M. Pereira, Vaidehi Jobanputra

Cold Spring Harb Mol Case Stud. 2022 Jun; 8(4): a006195. doi: 10.1101/mcs.a006195

PMCID:: PMC9235842

Article PDF–2.8M

Select item 87514149.

Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2

Kelly A. Duffy, Evan R. Hathaway, Steven D. Klein, Arupa Ganguly, Jennifer M. Kalish

Cold Spring Harb Mol Case Stud. 2021 Dec; 7(6): a006115. doi: 10.1101/mcs.a006115

PMCID:: PMC8751414

Article PDF–1.6M

Select item 860620410.

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 859024411.

A joint analysis using exome and transcriptome data identifiescandidate polymorphisms and genes involved with umbilical hernia in pigs

Igor Ricardo Savoldi, Adriana Mércia Guaratini Ibelli, Maurício Egídio Cantão, Jane de Oliveira Peixoto, Michele Porto Pires, Marcos Antônio Zanella Mores, Essamai Brizola Lagos, Jader Silva Lopes, Ricardo Zanella, Mônica Corrêa Ledur

BMC Genomics. 2021; 22: 818. Published online 2021 Nov 13. doi: 10.1186/s12864-021-08138-4

PMCID:: PMC8590244

Article PDF–2.6M

Select item 820348712.

Caldesmon ablation in mice causes umbilical herniation and alters contractility of fetal urinary bladder smooth muscle

Sandra Pütz, Lisa Sophie Barthel, Marina Frohn, Doris Metzler, Mohammed Barham, Galyna Pryymachuk, Oliver Trunschke, Lubomir T. Lubomirov, Jürgen Hescheler, Joseph M. Chalovich, Wolfram F. Neiss, Manuel Koch, Mechthild M. Schroeter, Gabriele Pfitzer

J Gen Physiol. 2021 Jul 5; 153(7): e202012776. Published online 2021 Jun 11. doi: 10.1085/jgp.202012776

PMCID:: PMC8203487

Article PDF–6.3M

Select item 791268513.

Genes and SNPs Involved with Scrotal and Umbilical Hernia in Pigs

Ariene Fernanda Grando Rodrigues, Adriana Mércia Guaratini Ibelli, Jane de Oliveira Peixoto, Maurício Egídio Cantão, Haniel Cedraz de Oliveira, Igor Ricardo Savoldi, Mayla Regina Souza, Marcos Antônio Zanella Mores, Luis Orlando Duitama Carreño, Mônica Corrêa Ledur

Genes (Basel) 2021 Feb; 12(2): 166. Published online 2021 Jan 27. doi: 10.3390/genes12020166

PMCID:: PMC7912685

Article PDF–2.2M

Select item 791162414.

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome

Sanaa Choufani, Jung Min Ko, Youliang Lou, Cheryl Shuman, Leona Fishman, Rosanna Weksberg

Genes (Basel) 2021 Feb; 12(2): 172. Published online 2021 Jan 27. doi: 10.3390/genes12020172

PMCID:: PMC7911624

Article PDF–2.7M

Select item 723364515.

Hypothyroidism and hyperthyroidism

Giulia Guerri, Simone Bressan, Marianna Sartori, Alisia Costantini, Sabrina Benedetti, Francesca Agostini, Silvia Tezzele, Stefano Cecchin, Andrea Scaramuzza, Matteo Bertelli

Acta Biomed. 2019; 90(Suppl 10): 83–86. Published online 2019 Sep 30. doi: 10.23750/abm.v90i10-S.8765

PMCID:: PMC7233645

Article PDF–592K

Select item 720523116.

Transcriptome analysis identifies genes involved with the development of umbilical hernias in pigs

Mayla Regina Souza, Adriana Mercia Guaratini Ibelli, Igor Ricardo Savoldi, Mauricio Egídio Cantão, Jane de Oliveira Peixoto, Marcos Antônio Zanella Mores, Jader Silva Lopes, Luiz Lehmann Coutinho, Mônica Corrêa Ledur

PLoS One. 2020; 15(5): e0232542. Published online 2020 May 7. doi: 10.1371/journal.pone.0232542