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Select item 23973801.

The Greig cephalopolysyndactyly syndrome

Leslie G Biesecker

Orphanet J Rare Dis. 2008; 3: 10. Published online 2008 Apr 24. doi: 10.1186/1750-1172-3-10

PMCID:: PMC2397380

Article PDF–499K

Select item 110557712.

Ugo Sorrentino, Sylvia Boesch, Diane Doummar, Claudia Ravelli, Tereza Serranova, Elisabetta Indelicato, Juliane Winkelmann, Lydie Burglen, Robert Jech, Michael Zech

J Neurol. 2024; 271(5): 2859–2865. Published online 2024 Mar 5. doi: 10.1007/s00415-024-12271-x

PMCID:: PMC11055771

Article PDF–457K

Select item 110556963.

Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro

Roberta De Mori, Silvia Tardivo, Lidia Pollara, Silvia Clara Giliani, Eltahir Ali, Lucio Giordano, Vincenzo Leuzzi, Rita Fischetto, Blanca Gener, Santo Diprima, Marco J. Morelli, Maria Cristina Monti, Virginie Sottile, Enza Maria Valente

Cell Tissue Res. 2024; 396(2): 255–267. Published online 2024 Mar 19. doi: 10.1007/s00441-024-03876-9

PMCID:: PMC11055696

Article PDF–7.2M

Select item 110536224.

Potential of Viruses as Environmental Etiological Factors for Non-Syndromic Orofacial Clefts

Thiago S. Messias, Kaique C. P. Silva, Thiago C. Silva, Simone Soares

Viruses. 2024 Apr; 16(4): 511. Published online 2024 Mar 27. doi: 10.3390/v16040511

PMCID:: PMC11053622

Article PDF–950K

Select item 110505915.

22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity

Melissa Bittencourt de Wallau, Ana Carolina Xavier, Carolina Araújo Moreno, Chong Ae Kim, Elaine Lustosa Mendes, Erlane Marques Ribeiro, Amanda Oliveira, Têmis Maria Félix, Agnes Cristina Fett-Conte, Luciana Cardoso Bonadia, Gabriela Roldão Correia-Costa, Isabella Lopes Monlleó, Vera Lúcia Gil-da-Silva-Lopes, Társis Paiva Vieira

Genes (Basel) 2024 Apr; 15(4): 518. Published online 2024 Apr 21. doi: 10.3390/genes15040518

PMCID:: PMC11050591

Article PDF–795K

Select item 110501436.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review

Ji Yoon Han, Joonhong Park

Genes (Basel) 2024 Apr; 15(4): 445. Published online 2024 Mar 31. doi: 10.3390/genes15040445

PMCID:: PMC11050143

Article PDF–1.2M

Select item 110500607.

Neuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome

Simon Smerconish, James Eric Schmitt

Genes (Basel) 2024 Apr; 15(4): 440. Published online 2024 Mar 30. doi: 10.3390/genes15040440

PMCID:: PMC11050060

Article PDF–355K

Select item 110497328.

Joubert syndrome presenting bilateral peroneal neuropathies: A case report

Hyeong-Min Kim, Hyun-Seok Jo, Jae-Young Han, In-Sung Choi, Min-Keun Song, Hyeng-Kyu Park

Medicine (Baltimore) 2024 Apr 26; 103(17): e37987. Published online 2024 Apr 26. doi: 10.1097/MD.0000000000037987

PMCID:: PMC11049732

Article PDF–542K

Select item 110496449.

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene

Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella

Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430

PMCID:: PMC11049644

Article PDF–732K

Select item 1104925710.

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

Ineke Cordova, Alyssa Blesson, Juliann M. Savatt, Abigail Sveden, Sonal Mahida, Heather Hazlett, Erin Rooney Riggs, Maya Chopra

Genes (Basel) 2024 Apr; 15(4): 423. Published online 2024 Mar 28. doi: 10.3390/genes15040423

PMCID:: PMC11049257

Article PDF–210K

Select item 1104909411.

Myelodysplastic Neoplasms (MDS): The Current and Future Treatment Landscape

Daniel Karel, Claire Valburg, Navitha Woddor, Victor E. Nava, Anita Aggarwal

Curr Oncol. 2024 Apr; 31(4): 1971–1993. Published online 2024 Apr 3. doi: 10.3390/curroncol31040148

PMCID:: PMC11049094

Article PDF–339K

Select item 1104817912.

Metformin Induces MeCP2 in the Hippocampus of Male Mice with Sex-Specific and Brain-Region-Dependent Molecular Impact

Khatereh Saei Arezoumand, Chris-Tiann Roberts, Mojgan Rastegar

Biomolecules. 2024 Apr; 14(4): 505. Published online 2024 Apr 21. doi: 10.3390/biom14040505

PMCID:: PMC11048179

Article PDF–3.7M

Select item 1104691513.

Syndromic ciliopathy: a taiwanese single-center study

Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai

BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0

PMCID:: PMC11046915

Article PDF–1.6M

Select item 1104674314.

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family

Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li

BMC Med Genomics. 2024; 17: 108. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01878-8

PMCID:: PMC11046743

Article PDF–1.8M

Select item 1104587015.

Gingival proteomics reveals the role of TGF beta and YAP/TAZ signaling in Raine syndrome fibrosis

Cláudio Rodrigues Rezende Costa, Rym Chalgoumi, Amina Baker, Clément Guillou, Paulo Marcio Yamaguti, Victor Simancas Escorcia, Lilia Abbad, Bruna Rabelo Amorin, Caroline Lourenço de Lima, Vidjea Cannaya, Mourad Benassarou, Ariane Berdal, Christos Chatziantoniou, Olivier Cases, Pascal Cosette, Renata Kozyraki, Ana Carolina Acevedo

Sci Rep. 2024; 14: 9497. Published online 2024 Apr 25. doi: 10.1038/s41598-024-59713-0

PMCID:: PMC11045870

Article PDF–9.2M

Select item 1104482616.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

Gillian V. Blayney, Eoghan Laffan, Preethi A. Jacob, Caitlin D. Baptiste, Heinz Gabriel, Teresa N. Sparks, Yuval Yaron, Mary E. Norton, Karin Diderich, Yiming Wang, Karen Chong, David Chitayat, Neelam Saini, Shagun Aggarwal, Montse Pauta, Antoni Borrell, Kelly Gilmore, Natalie J. Chandler, Stephanie Allen, Neeta Vora, Abdul Noor, Caitriona Monaghan, Mark D. Kilby, Ronald J. Wapner, Lyn S. Chitty, Fionnuala Mone

Prenat Diagn. Author manuscript; available in PMC 2024 Apr 25.

Published in final edited form as: Prenat Diagn. 2024 Apr; 44(4): 422–431. Published online 2023 Dec 6. doi: 10.1002/pd.6466

PMCID:: PMC11044826

Article PDF–330K

Select item 1104304217.

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita, Eiichiro Kawai, Jun Takayama, Shinya Iwasawa, Naoya Saijo, Masayuki Abiko, Kouta Suzuki, Masato Kimura, Akira Ozawa, Gen Tamiya, Shigeo Kure, Atsuo Kikuchi

J Hum Genet. 2024; 69(5): 177–183. Published online 2024 Feb 13. doi: 10.1038/s10038-024-01223-y

Correction in:: J Hum Genet. 2024; 69(5): 185.

PMCID:: PMC11043042

Article PDF–1.1M

Select item 1104303218.

The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

Tadashi Inoue, Ryuta Takase, Keiko Uchida, Kazuki Kodo, Kenji Suda, Yoriko Watanabe, Koh-Ichiro Yoshiura, Masaya Kunimatsu, Reina Ishizaki, Kenko Azuma, Kei Inai, Jun Muneuchi, Yoshiyuki Furutani, Hiroyuki Akagawa, Hiroyuki Yamagishi

J Hum Genet. 2024; 69(5): 215–222. Published online 2024 Feb 26. doi: 10.1038/s10038-024-01225-w

Correction in:: J Hum Genet. 2024 Mar 8

PMCID:: PMC11043032

Article PDF–1.8M

Select item 1104280519.

PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association

Marcel Proske, Robert Janowski, Sabrina Bacher, Hyun-Seo Kang, Thomas Monecke, Tony Koehler, Saskia Hutten, Jana Tretter, Anna Crois, Lena Molitor, Alejandro Varela-Rial, Roberto Fino, Elisa Donati, Gianni De Fabritiis, Dorothee Dormann, Michael Sattler, Dierk Niessing

eLife. 2024; 13: RP93561. Published online 2024 Apr 24. doi: 10.7554/eLife.93561

PMCID:: PMC11042805

Article PDF–5.8M

Select item 1104279820.

Non-canonical WNT5A-ROR signaling: new perspectives on an ancient developmental pathway

Sara E. Konopelski Snavely, Srisathya Srinivasan, Courtney Dreyer, Jia Tan, Kermit L. Carraway, III, Hsin-Yi Henry Ho

Curr Top Dev Biol. Author manuscript; available in PMC 2024 Apr 24.

Published in final edited form as: Curr Top Dev Biol. 2023; 153: 195–227. Published online 2023 Mar 17. doi: 10.1016/bs.ctdb.2023.01.009

PMCID:: PMC11042798

Article PDF–1.7M

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