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Select item 112199831.

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David Chitayat, Rebekah K. Jobling

Eur J Hum Genet. 2024 Jul; 32(7): 795–803. Published online 2024 May 22. doi: 10.1038/s41431-024-01629-4

PMCID:: PMC11219983

Abstract Article PDF–3.5M

Select item 111274182.

De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia

Xiaoyu Huang, Huiping Li, Shangying Yang, Meijiao Ma, Yuanyuan Lian, Xueli Wu, Xiaolong Qi, Xuhui Wang, Weining Rong, Xunlun Sheng

BMC Med Genomics. 2024; 17: 142. Published online 2024 May 24. doi: 10.1186/s12920-024-01904-9

PMCID:: PMC11127418

Abstract Article PDF–1.8M

Select item 110416013.

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill, Michael J Parker, Simon J McGowan, Stephen R F Twigg, Rod Chalk, David Staunton, David Johnson, Andrew O M Wilkie, Alex N Bullock

J Med Genet. 2024 May; 61(5): 490–501. Published online 2024 Jan 31. doi: 10.1136/jmg-2023-109531

PMCID:: PMC11041601

Abstract Article PDF–3.2M

Select item 110354664.

Sujuan Li, Anran Tian, Yu Wen, Wei Gu, Wei Li, Xiaohong Qiao, Cai Zhang, Xiaoping Luo

Eur J Pediatr. 2024; 183(5): 2257–2272. Published online 2024 Feb 27. doi: 10.1007/s00431-024-05484-9

PMCID:: PMC11035466

Abstract Article PDF–1.8M

Select item 110157085.

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease

Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K. Haanpää

Pediatr Dev Pathol. 2024 Mar-Apr; 27(2): 181–186. Published online 2023 Nov 19. doi: 10.1177/10935266231210155

PMCID:: PMC11015708

Abstract Article PDF–911K

Select item 109528336.

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

Caitlin Forwood, Katie Ashton, Ying Zhu, Futao Zhang, Kerith‐Rae Dias, Krystle Standen, Carey‐Anne Evans, Louise Carey, Michael Cardamone, Carolyn Shalhoub, Hala Katf, Carlos Riveros, Tzung‐Chien Hsieh, Peter Krawitz, Peter N Robinson, Tracy Dudding‐Byth, Bekim Sadikovic, Jason Pinner, Michael F. Buckley, Tony Roscioli

Am J Med Genet C Semin Med Genet. 2023 Sep; 193(3): e32056. Published online 2023 Aug 31. doi: 10.1002/ajmg.c.32056

PMCID:: PMC10952833

Abstract Article PDF–1.9M

Select item 108666627.

KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis

Jackelyn R. Raymundo, Hui Zhang, Giovanni Smaldone, Wenjuan Zhu, Kathleen E. Daly, Benjamin J. Glennon, Giovanni Pecoraro, Marco Salvatore, William A. Devine, Cecilia W. Lo, Luigi Vitagliano, Alexander G. Marneros

J Clin Invest. 2024 Feb 15; 134(4): e174138. Published online 2023 Dec 19. doi: 10.1172/JCI174138

PMCID:: PMC10866662

Abstract Article PDF–143M

Select item 105912498.

Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn – a Case Report

Fisal Rashid AlMatrifi, Ahmad Ayed Al-Shammari, Raed Mohamed Al Nefily, Rawan Abdulrahman AlAnazi, Abdulrahman Hamed Abdulwahab, Ahmed Sabry Ammar

Med Arch. 2023; 77(4): 319–322. doi: 10.5455/medarh.2023.77.319-322

PMCID:: PMC10591249

Abstract Article PDF–763K

Select item 105672099.

A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family

Ghazanfar Ali, Sadia Sadia, Syeda Ain-ul- Batool, Zahid Azeem, Naheed Bashir Awan, Syed Akif Raza Kazmi, Zia- Ur- Rehman, Zeeshan Anjum, Fazal- Ur- Rehman, Abdul Wali, Kafaitullah Khan, Nasib Zaman, Muhammad Ayub, Muhammad Sajid, Noor Hassan

Genet Res (Camb) 2023; 2023: 9999660. Published online 2023 Oct 4. doi: 10.1155/2023/9999660

PMCID:: PMC10567209

Abstract Article PDF–1.3M

Select item 1050173510.

High Frequency Oscillations (250–500Hz) in Animal Models of Alzheimer’s Disease and Two Animal Models of Epilepsy

Christos Panagiotis Lisgaras, Helen E. Scharfman

Epilepsia. Author manuscript; available in PMC 2024 Jan 1.

Published in final edited form as: Epilepsia. 2023 Jan; 64(1): 231–246. Published online 2022 Nov 29. doi: 10.1111/epi.17462

PMCID:: PMC10501735

Abstract Article PDF–4.2M

Select item 1037872511.

KAT6A::EP300 fusion in congenital myeloid sarcoma: Yet another novel molecular marker indicating spontaneous remission?: A case report

Smitha Hosahalli Vasanna, Sonal D. Shah, Bethany R. Rohr, Breanne Roche, Howard Meyerson, Irina Pateva

Medicine (Baltimore) 2023 Jul 28; 102(30): e34258. Published online 2023 Jul 28. doi: 10.1097/MD.0000000000034258

PMCID:: PMC10378725

Abstract Article PDF–561K

Select item 1029843312.

Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

Anna Douka, Lambros Goutzanis, Dimitrios Vlachakis, George P. Chrousos, Christos Yapijakis

Genes (Basel) 2023 Jun; 14(6): 1246. Published online 2023 Jun 10. doi: 10.3390/genes14061246

PMCID:: PMC10298433

Abstract Article PDF–2.9M

Select item 1025000913.

SCALP syndrome with a germline heterozygous DOCK6 mutation and somatic mosaic NRAS Q61R mutation: case report and review of the literature

Summer N. Meyer, Elanee M. Simmons, John D. McPherson, Smita Awasthi, Maija Kiuru

Pediatr Dermatol. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Pediatr Dermatol. 2023 May-Jun; 40(3): 523–527. Published online 2022 Dec 1. doi: 10.1111/pde.15184

PMCID:: PMC10250009

Abstract Article PDF–255K

Select item 1023469014.

Distinct skin microbiome community structures in congenital ichthyosis

Khek-Chian Tham, Rachel Lefferdink, Kaibo Duan, Seong Soo Lim, X F Colin C Wong, Erin Ibler, Benedict Wu, Hajar Abu-Zayed, Stephanie M Rangel, Ester Del Duca, Mashkura Chowdhury, Margot Chima, Hee Jee Kim, Bernett Lee, Emma Guttman-Yassky, Amy S Paller, John E A Common

Br J Dermatol. Author manuscript; available in PMC 2023 Oct 1.

Published in final edited form as: Br J Dermatol. 2022 Oct; 187(4): 557–570. Published online 2022 Jul 4. doi: 10.1111/bjd.21687

PMCID:: PMC10234690

Abstract Article PDF–1.3M

Select item 1009544815.

Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype

Michela Starace, Francesca Pampaloni, Francesca Bruni, Federico Quadrelli, Stephano Cedirian, Carlotta Baraldi, Cosimo Misciali, Alberto Di Martino, Patrizia Sabatelli, Luciano Merlini, Bianca Maria Piraccini

Int J Mol Sci. 2023 Apr; 24(7): 6678. Published online 2023 Apr 3. doi: 10.3390/ijms24076678

PMCID:: PMC10095448

Abstract Article PDF–4.1M

Select item 993328616.

Oral contraceptive pill (OCP) treatment alters the gene expression of intercellular adhesion molecule-1 (ICAM-1), tumor necrosis factor-α (TNF-α), monocyte chemoattractant protein-1 (MCP-1) and plasminogen activator inhibitor-1 (PAI-1) in polycystic ovary syndrome (PCOS) women compared to drug-naive PCOS women

Syed Douhath Yousuf, Mohammad Ashraf Ganie, Uneeb Urwat, Syed Mudasir Andrabi, Mohammad Afzal Zargar, Mashooq Ahmad Dar, Mir Manzoor-ul-Rehman, Syed Mudassar, Fouzia Rashid

BMC Womens Health. 2023; 23: 68. Published online 2023 Feb 15. doi: 10.1186/s12905-023-02187-5

PMCID:: PMC9933286

Abstract Article PDF–2.8M

Select item 982619117.

Cutaneous squamous cell carcinoma in an autosomal‐recessive Adams–Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene

Meyer‐Landolt Lukas, Gaspar Harald, Javier Sanz, Mafalda Trippel, Gallati Sabina, Rössler Jochen

Am J Med Genet A. 2022 Nov; 188(11): 3318–3323. Published online 2022 Sep 4. doi: 10.1002/ajmg.a.62961

PMCID:: PMC9826191

Abstract Article PDF–2.0M

Select item 962654118.

Mine Koprulu, Muhammad Naeem, Gökhan Nalbant, Rana M. Kamran Shabbir, Tariq Mahmood, Zele Huma, Sajid Malik, Aslıhan Tolun

Eur J Hum Genet. 2022 Nov; 30(11): 1292–1296. Published online 2022 Jun 9. doi: 10.1038/s41431-022-01128-4

PMCID:: PMC9626541

Abstract Article PDF–881K

Select item 955990619.

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

Abstract Article PDF–277K

Select item 942291720.

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Emine Kartal Baykan, Ayberk Türkyılmaz

J Clin Res Pediatr Endocrinol. 2022 Sep; 14(3): 350–355. Published online 2022 Aug 25. doi: 10.4274/jcrpe.galenos.2021.2020.0301

PMCID:: PMC9422917

Abstract Article PDF–1.0M

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