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Select item 41101031.

A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and Werner Mesomelic Syndrome in a Homozygous Form

Julia E. VanderMeer, Reymundo Lozano, Miao Sun, Yuan Xue, Donna Daentl, Ethylin Wang Jabs, William R. Wilcox, Nadav Ahituv

Hum Mutat. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Hum Mutat. 2014 Aug; 35(8): 945–948. Published online 2014 Jun 3. doi: 10.1002/humu.22581

PMCID:: PMC4110103

Abstract Article PDF–282K

Select item 33701152.

A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (LMBR1) Causes Preaxial Polydactyly with Triphalangeal Thumb

Tobias Laurell, Julia E VanderMeer, Aaron M. Wenger, Giedre Grigelioniene, Agneta Nordenskjöld, Marianne Arner, Anna Gerber Ekblom, Gill Bejerano, Nadav Ahituv, Ann Nordgren

Hum Mutat. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Hum Mutat. 2012 Jul; 33(7): 1063–1066. Published online 2012 May 11. doi: 10.1002/humu.22097

PMCID:: PMC3370115

Abstract Article PDF–431K

Select item 39666493.

Discovery of new enzymes and metabolic pathways using structure and genome context

Suwen Zhao, Ritesh Kumar, Ayano Sakai, Matthew W. Vetting, B. McKay Wood, Shoshana Brown, Jeffery B. Bonanno, Brandan S. Hillerich, Ronald D. Seidel, Patricia C. Babbitt, Steven C. Almo, Jonathan V. Sweedler, John A. Gerlt, John E. Cronan, Matthew P. Jacobson

Nature. Author manuscript; available in PMC 2014 Apr 30.

Published in final edited form as: Nature. 2013 Oct 31; 502(7473): 698–702. Published online 2013 Sep 22. doi: 10.1038/nature12576

PMCID:: PMC3966649

Abstract Article PDF–998K

Select item 55611674.

The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial Expression

Laura A. Lettice, Paul Devenney, Carlo De Angelis, Robert E. Hill

Cell Rep. 2017 Aug 8; 20(6): 1396–1408. Published online 2017 Aug 8. doi: 10.1016/j.celrep.2017.07.037

PMCID:: PMC5561167

Abstract Article

Select item 12805725.

Hypothalamic thermo-responsive neurones in the new-born rat.

T Hori, K Shinohara

J Physiol. 1979 Sep; 294: 541–560. doi: 10.1113/jphysiol.1979.sp012945

PMCID:: PMC1280572

Summary Page Browse PDF–3.2M

Select item 42187566.

Hypothalamic Temperature of Rats Subjected to Treadmill Running in a Cold Environment

Cletiana Gonçalves Fonseca, Washington Pires, Milene Rodrigues Malheiros Lima, Juliana Bohnen Guimarães, Nilo Resende Viana Lima, Samuel Penna Wanner

PLoS One. 2014; 9(11): e111501. Published online 2014 Nov 3. doi: 10.1371/journal.pone.0111501

PMCID:: PMC4218756

Abstract Article PDF–1.1M

Select item 63260777.

Cystic Fibrosis Foundation Practice Guidelines for the Management of Infants with CFTR-Related Metabolic Syndrome during the First Two Years of Life and Beyond

D Borowitz, R Parad, JK Sharp, K Sabadosa, KA Robinson, M Rock, P Farrell, M Sontag, M Rosenfeld, S Davis, B Marshall, F Accurso

J Pediatr. Author manuscript; available in PMC 2019 Jan 9.

Published in final edited form as: J Pediatr. 2009 Dec; 155(6 Suppl): S106–S116. doi: 10.1016/j.jpeds.2009.09.003

PMCID:: PMC6326077

Abstract Article PDF–626K

Select item 113896828.

Puckering effects of 4-hydroxy-l-proline isomers on the conformation of ornithine-free Gramicidin S

Akiko Asano, Kanako Nakayama, Sakura Okada, Takuma Kato, Mitsunobu Doi

Acta Crystallogr E Crystallogr Commun. 2024 Sep 1; 80(Pt 9): 942–946. Published online 2024 Aug 9. doi: 10.1107/S2056989024007771

PMCID:: PMC11389682

Abstract Article PDF–3.7M

Select item 113948379.

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report

Paola Montserrat Zepeda-Olmos, Kiabeth Robles-Espinoza, Eduardo Esparza-García, María Teresa Magaña-Torres

Int J Mol Sci. 2024 Sep; 25(17): 9348. Published online 2024 Aug 29. doi: 10.3390/ijms25179348

PMCID:: PMC11394837

Abstract Article PDF–2.2M

Select item 903467510.

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4

Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange‐Line Bruel, Frédéric Tran Mau‐Them, Vladimir Gomola, Jean‐Louis Lemelle, Olivier Klein, Marie‐Christine Camoin‐Schweitzer, Marie Magnavacca, Carole Legagneur, Marie‐Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup

Mol Genet Genomic Med. 2022 May; 10(5): e1869. Published online 2022 Mar 23. doi: 10.1002/mgg3.1869

PMCID:: PMC9034675

Abstract Article PDF–923K

Select item 895007311.

Phenotypic Variability in Phelan–McDermid Syndrome and Its Putative Link to Environmental Factors

Luigi Boccuto, Andrew Mitz, Ludovico Abenavoli, Sara M. Sarasua, William Bennett, Curtis Rogers, Barbara DuPont, Katy Phelan

Genes (Basel) 2022 Mar; 13(3): 528. Published online 2022 Mar 17. doi: 10.3390/genes13030528

PMCID:: PMC8950073

Abstract Article PDF–243K

Select item 903210812.

Novel Protein–Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays

Kalyani B. Karunakaran, George C. Gabriel, Narayanaswamy Balakrishnan, Cecilia W. Lo, Madhavi K. Ganapathiraju

Genes (Basel) 2022 Apr; 13(4): 627. Published online 2022 Apr 1. doi: 10.3390/genes13040627

PMCID:: PMC9032108

Abstract Article PDF–3.5M

Select item 902682613.

A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism

Lúcia Fadiga, Mariana Lavrador, Nuno Vicente, Luísa Barros, Catarina I. Gonçalves, Asma Al-Naama, Luis R. Saraiva, Manuel C. Lemos

Int J Mol Sci. 2022 Apr; 23(8): 4423. Published online 2022 Apr 17. doi: 10.3390/ijms23084423

PMCID:: PMC9026826

Abstract Article PDF–663K

Select item 902544514.

Identification and Somatic Characterization of the Germline PTEN Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors

Vittoria Disciglio, Paola Sanese, Candida Fasano, Claudio Lotesoriere, Anna Maria Valentini, Giovanna Forte, Martina Lepore Signorile, Katia De Marco, Valentina Grossi, Ivan Lolli, Filomena Cariola, Cristiano Simone

Genes (Basel) 2022 Apr; 13(4): 644. Published online 2022 Apr 5. doi: 10.3390/genes13040644

PMCID:: PMC9025445

Abstract Article PDF–2.2M

Select item 901966315.

The procoagulant status. Hypercoagulability as a risk factor of primary and secondary infertility

Simona-Daniela Neamţu, Liliana Stanca, Mirela Anişoara Siminel, Adela-Valeria Neamţu, Adrian Gluhovschi, Garofiţa-Olivia Mateescu, Anda-Lorena Dijmărescu, Maria-Sidonia Săndulescu, Anca-Maria Istrate-Ofiţeru, Magdalena Rodica Trăistaru

Rom J Morphol Embryol. 2021 Jul-Sep; 62(3): 829–834. Published online 2022 Feb 6. doi: 10.47162/RJME.62.3.21

PMCID:: PMC9019663

Abstract Article PDF–1.4M

Select item 901662616.

Characterisation of PLA2G6 as a locus for dystonia-parkinsonism

Coro Paisan-Ruiz, Kailash P Bhatia, Abi Li, Dena Hernandez, Mary Davis, Nick W Wood, John Hardy, Henry Houlden, Andrew Singleton, Susanne A Schneider

Ann Neurol. Author manuscript; available in PMC 2022 Apr 19.

Published in final edited form as: Ann Neurol. 2009 Jan; 65(1): 19–23. doi: 10.1002/ana.21415

PMCID:: PMC9016626

Abstract Article PDF–279K

Select item 901308717.

Prenatal sonographic findings in confirmed cases of Wolf-Hirschhorn syndrome

Corinna Simonini, Markus Hoopmann, Karl Oliver Kagan, Torsten Schröder, Ulrich Gembruch, Annegret Geipel

BMC Pregnancy Childbirth. 2022; 22: 327. Published online 2022 Apr 15. doi: 10.1186/s12884-022-04665-4

PMCID:: PMC9013087

Abstract Article PDF–1.1M

Select item 900166418.

Single-cell RNA sequencing coupled to TCR profiling of large granular lymphocyte leukemia T cells

Shouguo Gao, Zhijie Wu, Bradley Arnold, Carrie Diamond, Sai Batchu, Valentina Giudice, Lemlem Alemu, Diego Quinones Raffo, Xingmin Feng, Sachiko Kajigaya, John Barrett, Sawa Ito, Neal S. Young

Nat Commun. 2022; 13: 1982. Published online 2022 Apr 11. doi: 10.1038/s41467-022-29175-x