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Select item 68392191.

NF1 microdeletion syndrome: case report of two new patients

Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla

Ital J Pediatr. 2019; 45: 138. Published online 2019 Nov 8. doi: 10.1186/s13052-019-0718-7

PMCID:: PMC6839219

Article PDF–1.9M

Select item 62931512.

Rare NF1 microdeletion syndrome in an Omani patient

Musallam Al‐Araimi, Nishath Hamza, Ali Al Yahmadi, Hiba Al Mazrooey, Afaf Elsheikh, Amira Al Amri, Salma Al Harrasi, Lena Hausdorf, Waad‐Allah Mula‐Abed

Clin Case Rep. 2018 Dec; 6(12): 2424–2426. Published online 2018 Oct 26. doi: 10.1002/ccr3.1881

PMCID:: PMC6293151

Article PDF–149K

Select item 12883153.

NF1 Microdeletion Syndrome: Refined FISH Characterization of Sporadic and Familial Deletions with Locus-Specific Probes

Paola Riva, Lucia Corrado, Federica Natacci, Pierangela Castorina, Bai-Li Wu, Gretchen H. Schneider, Maurizio Clementi, Romano Tenconi, Bruce R. Korf, Lidia Larizza

Am J Hum Genet. 2000 Jan; 66(1): 100–109. Published online 1999 Dec 15. doi: 10.1086/302709

PMCID:: PMC1288315

Article PDF–512K

Select item 85537234.

Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions

Hildegard Kehrer-Sawatzki, David N. Cooper

Hum Genet. 2021; 140(12): 1635–1649. Published online 2021 Sep 18. doi: 10.1007/s00439-021-02363-3

PMCID:: PMC8553723

Article PDF–1.6M

Select item 58853095.

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

Ital J Pediatr. 2018; 44: 45. Published online 2018 Apr 4. doi: 10.1186/s13052-018-0483-z

PMCID:: PMC5885309

Article PDF–610K

Select item 26030366.

Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature

K A Mensink, R P Ketterling, H C Flynn, R A Knudson, N M Lindor, B A Heese, R J Spinner, D Babovic‐Vuksanovic

J Med Genet. 2006 Feb; 43(2): e8. doi: 10.1136/jmg.2005.034256

PMCID:: PMC2603036

Article

Select item 57399457.

Isolated Absent Thelarche in a Patient With Neurofibromatosis Type 1 and Acromegaly

Anne E. Martini, Jessica R. Zolton, Alan H. DeCherney

Obstet Gynecol. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Obstet Gynecol. 2018 Jan; 131(1): 96–99. doi: 10.1097/AOG.0000000000002389

PMCID:: PMC5739945

Article PDF–298K

Select item 52439168.

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel, Maria Sąsiadek, Magdalena Cabała, Ryszard Ślężak, Mariola Iliszko, Iwona Kardaś, Janusz Limon, Beata S. Lipska-Ziętkiewicz

J Appl Genet. 2017; 58(1): 93–98. Published online 2016 Sep 14. doi: 10.1007/s13353-016-0366-1

PMCID:: PMC5243916

Article PDF–354K

Select item 103881299.

Hydrophobic surface modification and characterization of melamine foam

Merve OKUTAN, Filiz BORAN, Ayça ERGÜN, Yusuf KANCA, Bengi ÖZKAHRAMAN, Hüseyin DELİGÖZ

Turk J Chem. 2023; 47(3): 591–604. Published online 2023 Apr 17. doi: 10.55730/1300-0527.3563

PMCID:: PMC10388129

Article PDF–8.8M

Select item 1031965110.

Deregulated expression of polycomb repressive complex 2 target genes in a NF1 patient with microdeletion generating the RNF135-SUZ12 chimeric gene

Viviana Tritto, Federico Grilli, Donatella Milani, Paola Riva

Neurogenetics. 2023; 24(3): 181–188. Published online 2023 May 5. doi: 10.1007/s10048-023-00718-8

PMCID:: PMC10319651

Article PDF–1.0M

Select item 998907611.

Management of Massive Mandibular Fibrous Dysplasia with Radical Excision and Different Immediate Reconstructive Modalities: Case Series Report

Abdel Aziz Baiomy Abdullah Baiomy, Shadia Abdelhameed Elsayed, Mohamed Ashraf Abdelfattah, Fatma Ahmed Khalifa

J Maxillofac Oral Surg. 2022 Dec; 21(4): 1311–1319. Published online 2021 Oct 30. doi: 10.1007/s12663-021-01660-8

PMCID:: PMC9989076

Article PDF–620K

Select item 892525812.

Esthetics and smile characteristics evaluated by laypersons: A comparison of Canadian and US data

Catherine McLeod, H. W. Fields, Frank Hechter, William Wiltshire, Wellington Rody, Jr, James Christensen

Angle Orthod. 2011 Mar; 81(2): 198–205. doi: 10.2319/060510-309.1

PMCID:: PMC8925258

Article PDF–2.5M

Select item 821775113.

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Gergely Büki, Anna Zsigmond, Márta Czakó, Renáta Szalai, Gréta Antal, Viktor Farkas, György Fekete, Dóra Nagy, Márta Széll, Marianna Tihanyi, Béla Melegh, Kinga Hadzsiev, Judit Bene

Front Genet. 2021; 12: 673025. Published online 2021 Jun 8. doi: 10.3389/fgene.2021.673025

PMCID:: PMC8217751

Article PDF–1.6M

Select item 783490014.

Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine: (1) Prenatal Aneuploidy Screening

Seung-Ah Choe, Hyun-Joo Seol, Ji Young Kwon, Chan-Wook Park, Minhyoung Kim, Ji Yeon Lee, Min-A Kim, Han-Sung Hwang, Sunghun Na, Jae-Yoon Shim, Kunwoo Kim, Hyun Mee Ryu

J Korean Med Sci. 2021 Jan 25; 36(4): e27. Published online 2021 Jan 8. doi: 10.3346/jkms.2021.36.e27

PMCID:: PMC7834900

Article PDF–2.4M

Select item 488642315.

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

Bobo Xie, Xin Fan, Yaqin Lei, Rongyu Chen, Jin Wang, Chunyun Fu, Shang Yi, Jingsi Luo, Shujie Zhang, Qi Yang, Shaoke Chen, Yiping Shen

Mol Cytogenet. 2016; 9: 41. Published online 2016 May 31. doi: 10.1186/s13039-016-0251-y

PMCID:: PMC4886423

Article PDF–1.6M

Select item 451472616.

Dosimetric verification of lung cancer treatment using the CBCTs estimated from limited-angle on-board projections

You Zhang, Fang-Fang Yin, Lei Ren

Med Phys. 2015 Aug; 42(8): 4783–4795. Published online 2015 Jul 23. doi: 10.1118/1.4926559

PMCID:: PMC4514726

Article PDF–8.4M

Select item 446496217.

Preliminary Clinical Evaluation of a 4D-CBCT Estimation Technique using Prior Information and Limited-angle Projections

You Zhang, Fang-Fang Yin, Tinsu Pan, Irina Vergalasova, Lei Ren

Radiother Oncol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Radiother Oncol. 2015 Apr; 115(1): 22–29. Published online 2015 Mar 26. doi: 10.1016/j.radonc.2015.02.022

PMCID:: PMC4464962

Article PDF–464K

Select item 326940018.

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports

Julia Vogt, Rosa Nguyen, Lan Kluwe, Martin Schuhmann, Angelika C Roehl, Tanja Mußotter, David N Cooper, Victor-Felix Mautner, Hildegard Kehrer-Sawatzki

J Med Case Reports. 2011; 5: 577. Published online 2011 Dec 12. doi: 10.1186/1752-1947-5-577

PMCID:: PMC3269400

Article PDF–779K

Select item 1100519519.

Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor

Giulia Fasano, Stefania Petrini, Valeria Bonavolontà, Graziamaria Paradisi, Catia Pedalino, Marco Tartaglia, Antonella Lauri

Mol Med. 2024; 30: 47. Published online 2024 Apr 9. doi: 10.1186/s10020-024-00807-w

PMCID:: PMC11005195

Article PDF–7.3M

Select item 1100506720.

In Vivo Assessment of Retinal Phenotypes in Axenfeld–Rieger Syndrome

Ana Untaroiu, Linda M. Reis, Brian P. Higgins, Ashleigh Walesa, Serena Zacharias, Danica Nikezic, Deborah M. Costakos, Joseph Carroll, Elena V. Semina

Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 20. Published online 2024 Apr 8. doi: 10.1167/iovs.65.4.20