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Select item 104567471.

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings

Seol Young Hong, Soo Jung Kim, Mi-Hye Park, Kyung A. Lee

Medicina (Kaunas) 2023 Aug; 59(8): 1387. Published online 2023 Jul 28. doi: 10.3390/medicina59081387

PMCID:: PMC10456747

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Select item 104228802.

Abnormalities of pubertal development and gonadal function in Noonan syndrome

Giuseppa Patti, Marco Scaglione, Nadia Gabriella Maiorano, Giulia Rosti, Maria Teresa Divizia, Tiziana Camia, Elena Lucia De Rose, Alice Zucconi, Emilio Casalini, Flavia Napoli, Natascia Di Iorgi, Mohamad Maghnie

Front Endocrinol (Lausanne) 2023; 14: 1213098. Published online 2023 Jul 28. doi: 10.3389/fendo.2023.1213098

PMCID:: PMC10422880

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Select item 102163333.

Organ Abnormalities Caused by Turner Syndrome

Sang Hoon Yoon, Ga Yeon Kim, Gyu Tae Choi, Jeong Tae Do

Cells. 2023 May; 12(10): 1365. Published online 2023 May 11. doi: 10.3390/cells12101365

PMCID:: PMC10216333

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Select item 102141764.

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A. Johnson, Sureni V. Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y. Vakhrushev, Katrine T. Schjoldager, Henrik Clausen, Thomas Worzfeld, Hiren J. Joshi, Adnan Halim

Proc Natl Acad Sci U S A. 2023 May 23; 120(21): e2302584120. Published online 2023 May 15. doi: 10.1073/pnas.2302584120

PMCID:: PMC10214176

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Select item 99568915.

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

Anna Maria Innoceta, Giulia Olivucci, Giulia Parmeggiani, Emanuela Scarano, Antonella Pragliola, Claudio Graziano

Genes (Basel) 2023 Feb; 14(2): 258. Published online 2023 Jan 19. doi: 10.3390/genes14020258

PMCID:: PMC9956891

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Select item 97712686.

A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

Keitaro Mizumoto, Kumiko Kato, Kaoru Fujinami, Tadasu Sugita, Iichiro Sugita, Ayako Hattori, Shinji Saitoh, Shinji Ueno, Kazushige Tsunoda, Takeshi Iwata, Mineo Kondo

Medicine (Baltimore) 2022 Dec 16; 101(50): e32161. Published online 2022 Dec 16. doi: 10.1097/MD.0000000000032161

PMCID:: PMC9771268

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Select item 96351977.

An infant with congenital heart defects and proteinuria: a case report

Dandan Liu, Yafeng Wang

BMC Pediatr. 2022; 22: 636. Published online 2022 Nov 4. doi: 10.1186/s12887-022-03705-4

PMCID:: PMC9635197

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Select item 95412008.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy

Paul R. Mark

Am J Med Genet A. 2022 Sep; 188(9): 2834–2849. Published online 2022 Apr 29. doi: 10.1002/ajmg.a.62764

PMCID:: PMC9541200

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Select item 93785449.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Pleuntje J. van der Sluijs, Marieke Joosten, Caroline Alby, Tania Attié-Bitach, Kelly Gilmore, Christele Dubourg, Mélanie Fradin, Tianyun Wang, Evangeline C. Kurtz-Nelson, Kaitlyn P. Ahlers, Peer Arts, Christopher P. Barnett, Myla Ashfaq, Anwar Baban, Myrthe van den Born, Sarah Borrie, Tiffany Busa, Alicia Byrne, Miriam Carriero, Claudia Cesario, Karen Chong, Anna Maria Cueto-González, Jennifer C. Dempsey, Karin E.M. Diderich, Dan Doherty, Stense Farholt, Erica H. Gerkes, Svetlana Gorokhova, Lutgarde C.P. Govaerts, Pernille A. Gregersen, Scott E. Hickey, Mathilde Lefebvre, Francesca Mari, Jelena Martinovic, Hope Northrup, Melanie O’Leary, Kareesma Parbhoo, Sophie Patrier, Bernt Popp, Fernando Santos-Simarro, Corinna Stoltenburg, Christel Thauvin-Robinet, Elisabeth Thompson, Anneke T. Vulto-van Silfhout, Farah R. Zahir, Hamish S. Scott, Rachel K. Earl, Evan E. Eichler, Neeta L. Vora, Yael Wilnai, Jessica L. Giordano, Ronald J. Wapner, Jill A. Rosenfeld, Monique C. Haak, Gijs W.E. Santen

Genet Med. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Genet Med. 2022 Aug; 24(8): 1753–1760. Published online 2022 May 18. doi: 10.1016/j.gim.2022.04.010

Correction in:: Genet Med. 2023 Feb; 25(2): 100004.

PMCID:: PMC9378544

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Select item 936339010.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

Giulia Napoli, Noemi Panzironi, Alice Traversa, Caterina Catalanotto, Valentina Pace, Francesco Petrizzelli, Agnese Giovannetti, Sara Lazzari, Carlo Cogoni, Marco Tartaglia, Massimo Carella, Tommaso Mazza, Antonio Pizzuti, Chiara Parisi, Viviana Caputo

Mol Neurobiol. 2022; 59(8): 4825–4838. Published online 2022 May 31. doi: 10.1007/s12035-022-02886-4

PMCID:: PMC9363390

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Select item 935654811.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Suraj Kannan, Joann N. Bodurtha, Ada Hamosh, Christopher Jordan

Mol Genet Genomic Med. 2022 Aug; 10(8): e1947. Published online 2022 Jul 6. doi: 10.1002/mgg3.1947

PMCID:: PMC9356548

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Select item 930052612.

Fetal ciliopathies: a retrospective observational single-center study

Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel

Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7

PMCID:: PMC9300526

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Select item 924527713.

Congenital portosystemic venous shunt associated with 22q11.2 deletion syndrome: a case report

Toshinobu Ifuku, Sayo Suzuki, Yusaku Nagatomo, Ryohei Yokoyama, Yoshiko Yamamura, Keigo Nakatani

BMC Pediatr. 2022; 22: 379. Published online 2022 Jun 29. doi: 10.1186/s12887-022-03447-3

PMCID:: PMC9245277

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Select item 922378514.

Col4a3^-/- Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 Backgrounds

Camila I. Irion, Monique Williams, Jose Condor Capcha, Trevor Eisenberg, Guerline Lambert, Lauro M. Takeuchi, Grace Seo, Keyvan Yousefi, Rosemeire Kanashiro-Takeuchi, Keith A. Webster, Karen C. Young, Joshua M. Hare, Lina A. Shehadeh

Int J Mol Sci. 2022 Jun; 23(12): 6674. Published online 2022 Jun 15. doi: 10.3390/ijms23126674

PMCID:: PMC9223785

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Select item 874463315.

Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1

Giuseppina Salzano, Luciana Rigoli, Mariella Valenzise, Roberto Chimenz, Stefano Passanisi, Fortunato Lombardo

Int J Environ Res Public Health. 2022 Jan; 19(1): 520. Published online 2022 Jan 4. doi: 10.3390/ijerph19010520

PMCID:: PMC8744633

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Select item 853520516.

Disruptive NADSYN1 Variants Implicated in Congenital Vertebral Malformations

Jiachen Lin, Lina Zhao, Sen Zhao, Shengjie Li, Zhengye Zhao, Zefu Chen, Zhifa Zheng, Jiashen Shao, Yuchen Niu, Xiaoxin Li, Jianguo Terry Zhang, Zhihong Wu, Nan Wu

Genes (Basel) 2021 Oct; 12(10): 1615. Published online 2021 Oct 14. doi: 10.3390/genes12101615

PMCID:: PMC8535205

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Select item 852591317.

NOVEL LCAT-BASED THERAPEUTIC APPROACHES

Lita A. Freeman, Sotirios Karathanasis, Alan T. Remaley

Curr Opin Lipidol. Author manuscript; available in PMC 2021 Oct 19.

Published in final edited form as: Curr Opin Lipidol. 2020 Apr; 31(2): 71–79. doi: 10.1097/MOL.0000000000000673

PMCID:: PMC8525913

Article PubReader PDF–995K Cite

Select item 840422318.

Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review

Jing Liu, Qin Liu, Shuting Yang, Na Ma, Jialun Pang, Ying Peng, Hui Xi, Zhengjun Jia, Yingchun Luo, Meiping Jiang, Yanling Teng, Wenxian Yu, Zhuo Li, Hua Wang

Mol Genet Genomic Med. 2021 Aug; 9(8): e1750. Published online 2021 Jul 22. doi: 10.1002/mgg3.1750

PMCID:: PMC8404223

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Select item 825747819.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

Víctor Faundes, Stephanie Goh, Rhoda Akilapa, Heidre Bezuidenhout, Hans T. Bjornsson, Lisa Bradley, Angela F. Brady, Elise Brischoux-Boucher, Han Brunner, Saskia Bulk, Natalie Canham, Declan Cody, Maria Lisa Dentici, Maria Cristina Digilio, Frances Elmslie, Andrew E. Fry, Harinder Gill, Jane Hurst, Diana Johnson, Sophie Julia, Katherine Lachlan, Robert Roger Lebel, Melissa Byler, Eric Gershon, Edmond Lemire, Maria Gnazzo, Francesca Romana Lepri, Antonia Marchese, Meriel McEntagart, Julie McGaughran, Seiji Mizuno, Nobuhiko Okamoto, Claudine Rieubland, Jonathan Rodgers, Erina Sasaki, Emmanuel Scalais, Ingrid Scurr, Mohnish Suri, Ineke van der Burgt, Naomichi Matsumoto, Noriko Miyake, Valérie Benoit, Damien Lederer, Siddharth Banka

Genet Med. 2021; 23(7): 1202–1210. Published online 2021 Mar 5. doi: 10.1038/s41436-021-01119-8

PMCID:: PMC8257478

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Select item 817991220.

Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy

David Adams, Yukio Ando, João Melo Beirão, Teresa Coelho, Morie A. Gertz, Julian D. Gillmore, Philip N. Hawkins, Isabelle Lousada, Ole B. Suhr, Giampaolo Merlini

J Neurol. 2021; 268(6): 2109–2122. Published online 2020 Jan 6. doi: 10.1007/s00415-019-09688-0

PMCID:: PMC8179912

Article PubReader PDF–772K Cite

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