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Select item 115157041.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

BMC Neurol. 2024; 24: 409. Published online 2024 Oct 23. doi: 10.1186/s12883-024-03852-4

Correction in:: BMC Neurol. 2024; 24: 477.

PMCID:: PMC11515704

Abstract Article PDF–1.4M

Select item 110879472.

Prenatal diagnosis of cleidocranial dysplasia: Case report on two cases with a negative family history

Ruizheng Han, Chunshuang Zhang, Xiling Fu, Zhengfeng Zhu, Xinxia Wang, Hezhou Li

Heliyon. 2024 May 15; 10(9): e29816. Published online 2024 Apr 17. doi: 10.1016/j.heliyon.2024.e29816

PMCID:: PMC11087947

Abstract Article PDF–6.6M

Select item 107968803.

SMARCB1-Deficient Skull Base Chondrosarcoma with 12p Duplication Presenting as Somatic-Type Malignancy Arising from Metastatic Seminoma

Prokopios P. Argyris, Bindu Challa, Swati Satturwar, Kyle K. VanKoevering, Paul E. Wakely, Jr

Head Neck Pathol. 2024 Dec; 18(1): 1. Published online 2024 Jan 18. doi: 10.1007/s12105-023-01610-5

PMCID:: PMC10796880

Abstract Article PDF–2.6M

Select item 107532584.

伴11号染色体长臂异常的儿童成熟B细胞淋巴瘤11例临床研究

张楠, 段彦龙, 周春菊, 金玲, 杨菁, 黄爽, 张梦, 李楠

Zhonghua Xue Ye Xue Za Zhi. 2023 Nov; 44(11): 924–929. Chinese. doi: 10.3760/cma.j.issn.0253-2727.2023.11.007

PMCID:: PMC10753258

Abstract Article PDF–1.1M

Select item 107221225.

Treacher Collins综合征TCOF1基因变异及骨桥植入听力干预效果分析

李勇桦, 池文月, 林垦, 祖金艳, 邵华, 毛志勇, 陈泉东, 马静

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Sep 3; 37(9): 748–754. Chinese. doi: 10.13201/j.issn.2096-7993.2023.09.011

PMCID:: PMC10722122

Abstract Article PDF–4.2M

Select item 99126156.

Morphometric analysis of the size-adjusted linear dimensions of the skull landmarks revealed craniofacial dysmorphology in Mid1-cKO mice

Yaohui Liang, Chao Song, Jieli Li, Ting Li, Chunlei Zhang, Yi Zou

BMC Genomics. 2023; 24: 68. Published online 2023 Feb 9. doi: 10.1186/s12864-023-09162-2

PMCID:: PMC9912615

Abstract Article PDF–4.9M

Select item 98015477.

Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello

Ital J Pediatr. 2022; 48: 206. Published online 2022 Dec 29. doi: 10.1186/s13052-022-01403-6

PMCID:: PMC9801547

Abstract Article PDF–1.2M

Select item 96265638.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients

Lily Guo, Jiyeon Park, Edward Yi, Elaine Marchi, Tzung-Chien Hsieh, Yana Kibalnyk, Yolanda Moreno-Sáez, Saskia Biskup, Oliver Puk, Carmela Beger, Quan Li, Kai Wang, Anastassia Voronova, Peter M. Krawitz, Gholson J. Lyon

Eur J Hum Genet. 2022 Nov; 30(11): 1244–1254. Published online 2022 Aug 15. doi: 10.1038/s41431-022-01171-1

PMCID:: PMC9626563

Abstract Article PDF–1.4M

Select item 95485639.

Cases of tetrasomy 9p and trisomy 9p in prenatal diagnosis—Analysis of noninvasive and invasive test results

Hanna Moczulska, Michal Pietrusinski, Karolina Zezawska, Marcin Serafin, Beata Skoczylas, Tomasz Jachymski, Katarzyna Wojda, Piotr Sieroszewski, Maciej Borowiec

Front Genet. 2022; 13: 994455. Published online 2022 Sep 26. doi: 10.3389/fgene.2022.994455

PMCID:: PMC9548563

Abstract Article PDF–755K

Select item 901308710.

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 896918511.

Gene knockdown of CCR3 reduces eosinophilic inflammation and the Th2 immune response by inhibiting the PI3K/AKT pathway in allergic rhinitis mice

Jiasheng Yuan, Yuehui Liu, Juan Yu, Meina Dai, Yu Zhu, Youwei Bao, Haisen Peng, Ke Liu, Xinhua Zhu

Sci Rep. 2022; 12: 5411. Published online 2022 Mar 30. doi: 10.1038/s41598-022-09467-4

PMCID:: PMC8969185

Abstract Article PDF–6.2M

Select item 895456212.

Fetal Nasal Bone Hypoplasia in the Second Trimester as a Marker of Multiple Genetic Syndromes

Hanna Moczulska, Marcin Serafin, Katarzyna Wojda, Maciej Borowiec, Piotr Sieroszewski

J Clin Med. 2022 Mar; 11(6): 1513. Published online 2022 Mar 10. doi: 10.3390/jcm11061513

PMCID:: PMC8954562

Abstract Article PDF–1.4M

Select item 892484713.

Nasal bone to nasal tip length ratio for describing nasal bone hypoplasia and predicting trisomy 21

Emre Ekmekci, Emine Demirel, Sefa Kelekci

Arch Med Sci. 2022; 18(2): 395–399. Published online 2019 Jun 6. doi: 10.5114/aoms.2019.85655

PMCID:: PMC8924847

Abstract Article PDF–160K

Select item 887136514.

Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review

Kuntharee Traisrisilp, Yuri Yanase, Srimeunwai Ake-sittipaisarn, Theera Tongsong

Diagnostics (Basel) 2022 Feb; 12(2): 421. Published online 2022 Feb 6. doi: 10.3390/diagnostics12020421

PMCID:: PMC8871365

Abstract Article PDF–1.7M

Select item 880080515.

74例鼻骨缺失胎儿单核苷酸多态性微阵列检测结果分析

Jialing YU, Yixi SUN, Junjie HU, Yeqing QIAN, Yuqin LUO, Minyue DONG

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Aug 25; 48(4): 414–419. Chinese. doi: 10.3785/j.issn.1008-9292.2019.08.11

PMCID:: PMC8800805

Abstract Article PDF–970K

Select item 836496616.

Is Prenatal Diagnosis Necessary for Fetal Isolated Nasal Bone Absence or Hypoplasia?

Feng Zhang, Wei Long, Qin Zhou, Jing Wang, Ye Shi, Jianbing Liu, Qiuwei Wang

Int J Gen Med. 2021; 14: 4435–4441. Published online 2021 Aug 11. doi: 10.2147/IJGM.S322359

PMCID:: PMC8364966

Abstract Article PDF–1.4M

Select item 830748717.

Skeletal Deformities in Osterix-Cre;Tgfbr2^f/f Mice May Cause Postnatal Death

Kara Corps, Monica Stanwick, Juliann Rectenwald, Andrew Kruggel, Sarah B. Peters

Genes (Basel) 2021 Jul; 12(7): 975. Published online 2021 Jun 25. doi: 10.3390/genes12070975

PMCID:: PMC8307487

Abstract Article PDF–9.6M

Select item 805482018.

Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study

Hailong Huang, Meiying Cai, Wei Ma, Na Lin, Liangpu Xu

Risk Manag Healthc Policy. 2021; 14: 1533–1540. Published online 2021 Apr 14. doi: 10.2147/RMHP.S286038

PMCID:: PMC8054820

Abstract Article PDF–286K

Select item 805103719.

A novel variant in the PDE4D gene is the cause of Acrodysostosis type 2 in a Lithuanian patient: a case report

Gunda Petraitytė, Kamilė Šiaurytė, Violeta Mikštienė, Loreta Cimbalistienė, Dovilė Kriaučiūnienė, Aušra Matulevičienė, Algirdas Utkus, Eglė Preikšaitienė

BMC Endocr Disord. 2021; 21: 71. Published online 2021 Apr 15. doi: 10.1186/s12902-021-00741-6