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Items: 1 to 20 of 77

1.
Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome
Nikolinka Yordanova, Violeta Iotova, Deborah J. G. Mackay, I. Karen Temple, Sara Stoyanova, Mari Hachmeriyan
J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 475–480. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2022.2022-9-19
PMCID:
PMC11629717
ArticlePDF–1.7M
2.
A long way to syndromic short stature
Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani
Ital J Pediatr. 2024; 50: 192. Published online 2024 Sep 27. doi: 10.1186/s13052-024-01737-3
PMCID:
PMC11437795
ArticlePDF–2.1M
3.
Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene
Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati
BMC Pediatr. 2024; 24: 444. Published online 2024 Jul 10. doi: 10.1186/s12887-024-04924-7
PMCID:
PMC11234776
ArticlePDF–656K
4.
Aberrant splicing caused by a novel KMT2A variant in Wiedemann–Steiner syndrome
Jianing Niu, Xiaoming Teng, Junyu Zhang
Mol Genet Genomic Med. 2024 Mar; 12(3): e2415. Published online 2024 Mar 15. doi: 10.1002/mgg3.2415
PMCID:
PMC10941593
ArticlePDF–1.6M
5.
A de novo variant in ZBTB18 gene caused autosomal dominant non-syndromic intellectual disability 22 syndrome: A case report and literature review
Fan Yang, Yu Ding, Yirou Wang, Qingwen Zhang, Hao Li, Tingting Yu, Guoying Chang, Xiumin Wang
Medicine (Baltimore) 2024 Jan 12; 103(2): e35908. Published online 2024 Jan 12. doi: 10.1097/MD.0000000000035908
PMCID:
PMC10783315
ArticlePDF–1.7M
6.
Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
Xin Lv, Xiao Yang, Linlin Li, Fagui Yue, Hongguo Zhang, Ruixue Wang
Medicine (Baltimore) 2023 Oct 27; 102(43): e34852. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034852
PMCID:
PMC10615468
ArticlePDF–642K
7.
A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay
Dong Wang, Jin Wu
Mol Genet Genomic Med. 2023 Aug; 11(8): e2227. Published online 2023 Jun 18. doi: 10.1002/mgg3.2227
PMCID:
PMC10422060
ArticlePDF–2.6M
8.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A. Mendelsohn, Daniah T. Beleford, Aya Abu-El-Haija, Norah S. Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T. Shieh, Jessica Van Ziffle, Neil Risch, Fowzan S. Alkuraya, Anne M. Slavotinek
Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 11.
Published in final edited form as: Am J Med Genet A. 2020 Mar; 182(3): 513–520. Published online 2019 Dec 27. doi: 10.1002/ajmg.a.61450
PMCID:
PMC10335815
ArticlePDF–1.2M
9.
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis
Rajech Sharkia, Sahil Jain, Muhammad Mahajnah, Clair Habib, Abdussalam Azem, Wasif Al-Shareef, Abdelnaser Zalan
Genes (Basel) 2023 May; 14(5): 1031. Published online 2023 Apr 30. doi: 10.3390/genes14051031
PMCID:
PMC10217894
ArticlePDF–865K
10.
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3–4
Kun Yang, Xi Wang, Wei‐Qian Wang, Ming‐Yu Han, Li‐Min Hu, Dong‐Yang Kang, Jin‐Yuan Yang, Min Liu, Xue Gao, Yong‐Yi Yuan, Jin‐Cao Xu
Mol Genet Genomic Med. 2023 Mar; 11(3): e2103. Published online 2022 Nov 14. doi: 10.1002/mgg3.2103
PMCID:
PMC10009913
ArticlePDF–1.6M
11.
Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism
Donald Bajia, Emanuela Bottani, Katarzyna Derwich
Cells. 2022 Oct; 11(19): 3099. Published online 2022 Oct 1. doi: 10.3390/cells11193099
PMCID:
PMC9563972
ArticlePDF–1.6M
12.
Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome
Nattaporn Tassanakijpanich, Rachel Wright, Flora Tassone, Suma P Shankar, Randi Hagerman
BMJ Case Rep. 2022; 15(7): e247901. Published online 2022 Jul 26. doi: 10.1136/bcr-2021-247901
PMCID:
PMC9330300
ArticlePDF–300K
13.
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM–URDC (Undiagnosed Rare Disease Clinic) program
Annalise Jacobs, Catherine Burns, Purva Patel, Kayla Treat, Benjamin M. Helm, Erin Conboy, Francesco Vetrini
Cold Spring Harb Mol Case Stud. 2022 Feb; 8(2): a006170. doi: 10.1101/mcs.a006170
PMCID:
PMC8958911
ArticlePDF–7.8M
14.
Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy
Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje van Rij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester, Aline Verstraeten, Willy Hendson, Bart Loeys
Mol Genet Genomic Med. 2021 Oct; 9(10): e1797. Published online 2021 Sep 9. doi: 10.1002/mgg3.1797
PMCID:
PMC8580096
ArticlePDF–742K
15.
Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population
Xianze Luo, Qing Liu, Jinqiu Jiang, Wenjing Tang, Yuan Ding, Lina Zhou, Jie Yu, Xuemei Tang, Yunfei An, Xiaodong Zhao
Front Immunol. 2021; 12: 695993. Published online 2021 Sep 24. doi: 10.3389/fimmu.2021.695993
PMCID:
PMC8498043
ArticlePDF–1.9M
16.
A Recurrent De Novo Terminal Duplication of 14q32 in Korean Siblings Associated with Developmental Delay and Intellectual Disability, Growth Retardation, Facial Dysmorphism, and Cerebral Infarction: A Case Report and Literature Review
Ji Yoon Han, Joonhong Park
Genes (Basel) 2021 Sep; 12(9): 1388. Published online 2021 Sep 7. doi: 10.3390/genes12091388
PMCID:
PMC8472681
ArticlePDF–2.8M
17.
Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations: a case report and literature review
Makiho Ishibashi, Takafumi Watanabe, Hyo Kyozuka, Akiko Yamaguchi, Kenichi Sato, Maki Sato, Hayato Go, Keiya Fujimori
Fukushima J Med Sci. 2021; 67(2): 83–88. Published online 2021 May 15. doi: 10.5387/fms.2020-28
PMCID:
PMC8460283
ArticlePDF–275K
18.
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly
Peiwei Zhao, Lei Zhang, Li Tan, Sukun Luo, Yufeng Huang, Hanming Peng, Jiangxia Cao, Xuelian He
Mol Genet Genomic Med. 2021 Sep; 9(9): e1751. Published online 2021 Jul 31. doi: 10.1002/mgg3.1751
PMCID:
PMC8457690
ArticlePDF–1.1M
19.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang-Muritano, Conny M. A. van Ravenswaaij-Arts, Marwan Shinawi, Marisa Andrews, Tania Attie-Bitach, Isabelle Maystadt, Newell Belnap, Valerie Benoit, Geoffroy Delplancq, Bert B. A. de Vries, Sarah Grotto, Didier Lacombe, Austin Larson, Jeroen Mourmans, Katrin Õunap, Giulia Petrilli, Rolph Pfundt, Keri Ramsey, Lot Snijders Blok, Vassilis Tsatsaris, Antonio Vitobello, Laurence Faivre, Patricia G. Wheeler, Marijke R. Wevers, Monica Wojcik, Markus Zweier, Or Gozani, Anita Rauch
Genet Med. 2021; 23(8): 1474–1483. Published online 2021 May 3. doi: 10.1038/s41436-021-01158-1
PMCID:
PMC8354849
ArticlePDF–2.3M
20.
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
ArticlePDF–1.2M

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