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Items: 18

Select item 115562331.

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss

Zhoushu Zheng, Lulu Yan, Lu Ding, Yinghui Zhang, Meihong Wang, Yihui Yang, Junhua Wu, Changshui Chen, Ming Tang, Haibo Li

Appl Clin Genet. 2024; 17: 171–186. Published online 2024 Nov 8. doi: 10.2147/TACG.S472898

PMCID:: PMC11556233

Article PDF–4.2M

Select item 98015472.

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

Article PDF–1.2M

Select item 95599063.

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

Article PDF–277K

Select item 93828644.

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala‐Mello, Outi Mäkitie, Alice Costantini

JBMR Plus. 2022 Aug; 6(8): e10660. Published online 2022 Jul 5. doi: 10.1002/jbm4.10660

PMCID:: PMC9382864

Article PDF–3.3M

Select item 92748085.

Special manifestations and treatment of rare cases of snoring with special facial features and hearing loss in children

Jiali Wu, Xiaoli Li, Shumei Chen

J Int Med Res. 2022 Jul; 50(7): 03000605221108085. Published online 2022 Jul 7. doi: 10.1177/03000605221108085

PMCID:: PMC9274808

Article PDF–608K

Select item 88470526.

Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis

Veronica Arora, Sunita Bijarnia-Mahay, K. K. Saxena, Praveen Suman, Shyam Kukreja

J Pediatr Genet. 2022 Mar; 11(1): 63–67. Published online 2020 Aug 4. doi: 10.1055/s-0040-1715120

PMCID:: PMC8847052

Article PDF–305K

Select item 85006627.

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report

Changhoon Jeong, Myungshin Kim, Jisook Yim, Il-Jung Park, Jiwon Lee, Jaeyoung Lee

Medicine (Baltimore) 2021 Oct 8; 100(40): e27346. Published online 2021 Oct 8. doi: 10.1097/MD.0000000000027346

PMCID:: PMC8500662

Article PDF–329K

Select item 83344668.

CT of the temporal bone in a patient with osteopathia striata and cranial sclerosis.

G T Odrezin, N Krasikov

AJNR Am J Neuroradiol. 1993 Jan-Feb; 14(1): 72-5.

PMCID:: PMC8334466

Summary PDF–2.0M

Select item 81103389.

Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1

José María García-Aznar, Noelia Ramírez, David De Uña, Elisa Santiago, Lorenzo Monserrat

J Pediatr Genet. 2021 Jun; 10(2): 139–146. Published online 2020 Apr 21. doi: 10.1055/s-0040-1710058

PMCID:: PMC8110338

Article PDF–258K

Select item 808473710.

Osteopathia striata in the mandible with cranial sclerosis: a case report and review of the literature

Rohan Jagtap, Michelle Briner Garrido, Matthew Hansen

J Korean Assoc Oral Maxillofac Surg. 2021 Apr 30; 47(2): 141–144. Published online 2021 Apr 30. doi: 10.5125/jkaoms.2021.47.2.141

PMCID:: PMC8084737

Article PDF–841K

Select item 794048711.

Wilms tumor in patients with osteopathia striata with cranial sclerosis

Alicia Bach, Jingyi Mi, Matthew Hunter, Benjamin J. Halliday, Sixto García-Miñaúr, Francesca Sperotto, Eva Trevisson, David Markie, Ian M. Morison, Marwan Shinawi, Daniel N. Willis, Stephen P. Robertson

Eur J Hum Genet. 2021 Mar; 29(3): 396–401. Published online 2020 Sep 2. doi: 10.1038/s41431-020-00718-4

PMCID:: PMC7940487

Article PDF–712K

Select item 776025612.

Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis

Jingyi Mi, Padmini Parthasarathy, Benjamin J. Halliday, Tim Morgan, John Dean, Malgorzata J. M. Nowaczyk, David Markie, Stephen P. Robertson, Emma M. Wade

Genes (Basel) 2020 Dec; 11(12): 1439. Published online 2020 Nov 30. doi: 10.3390/genes11121439

PMCID:: PMC7760256

Article PDF–627K

Select item 525813913.

Sclerosing bone dysplasias: genetic, clinical and radiology update of hereditary and non-hereditary disorders

Cedric Boulet, Hardi Madani, Leon Lenchik, Filip Vanhoenacker, Deepak S Amalnath, Johan de Mey, Michel De Maeseneer

Br J Radiol. June 2016; 89(1062): 20150349. Published online 2016 Apr 12. doi: 10.1259/bjr.20150349

PMCID:: PMC5258139

Article PDF–1.2M

Select item 428353414.

Osteomyelitis in an Osteopathia Striata with Cranial Sclerosis Patient

Heung-Chul Park, Hang-Gul Kim, Yong-Hwan Kim, Joo-Hwan Kim, Moon-Young Kim, Kyung-Wook Kim

Maxillofac Plast Reconstr Surg. 2014 Nov; 36(6): 285–291. Published online 2014 Nov 12. doi: 10.14402/jkamprs.2014.36.6.285

PMCID:: PMC4283534

Article PDF–4.4M

Select item 405298515.

The WTX Tumor Suppressor Regulates Mesenchymal Progenitor Cell Fate Specification

Annie Moisan, Miguel N. Rivera, Sutada Lotinun, Sara Akhavanfard, Erik J. Coffman, Edward B. Cook, Svetlana Stoykova, Siddhartha Mukherjee, Jesse A. Schoonmaker, Alexa Burger, Woo Jae Kim, Henry M. Kronenberg, Roland Baron, Daniel A. Haber, Nabeel Bardeesy

Dev Cell. Author manuscript; available in PMC 2014 Jun 11.

Published in final edited form as: Dev Cell. 2011 May 17; 20(5): 583–596. doi: 10.1016/j.devcel.2011.03.013

Correction in:: Dev Cell. 2012 May 15; 22(5): 1109–1117.

PMCID:: PMC4052985

Article PDF–4.0M

Select item 375249016.

A case report of focal dermal hypoplasia-Goltz syndrome

Sheela Bharani, Sejal Thakkar

Indian Dermatol Online J. 2013 Jul-Sep; 4(3): 241–243. doi: 10.4103/2229-5178.115535

PMCID:: PMC3752490

Article PDF–1.1M

Select item 341673117.

WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features

Anna Maria Zicari, Luigi Tarani, Daniela Perotti, Laura Papetti, Francesco Nicita, Natascia Liberati, Alberto Spalice, Guglielmo Salvatori, Federica Guaraldi, Marzia Duse

Ital J Pediatr. 2012; 38: 27. Published online 2012 Jun 20. doi: 10.1186/1824-7288-38-27