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Items: 1 to 20 of 67

1.
Modified Five-Flap Z-plasty for Surgical Correction of Webbed Neck Deformity in Turner Syndrome
Mohd Tarmizi Mohd Said, Ahmad Sukari Halim, Mohammad Ali Mat Zain, Khai Luen Koh
Cureus. 2023 May; 15(5): e39312. Published online 2023 May 21. doi: 10.7759/cureus.39312
PMCID:
PMC10281829
ArticlePDF–1.0M
2.
Surgical Management of Pterygium Colli with Significant Skin Laxity: A Case Report
Charline Huttin, Patrick Ringenbach, Anastasia Durry, Mihai Hogas, Ionut Raducu Popescu, Alin Ciobica, Mihaela Elena Nastasa
Biomedicines. 2023 Mar; 11(3): 984. Published online 2023 Mar 22. doi: 10.3390/biomedicines11030984
PMCID:
PMC10046798
ArticlePDF–1.5M
3.
Surgical correction of the webbed neck: an alternative lateral approach
Imen Mehri Turki
GMS Interdiscip Plast Reconstr Surg DGPW. 2017; 6: Doc04. Published online 2017 Mar 2. doi: 10.3205/iprs000106
PMCID:
PMC5340086
ArticlePDF–1.2M
4.
The “Posterior Cervical Lift”: A New Approach to Pterygium Colli Management
Benoit Chaput, Jean Pierre Chavoin, Raphael Lopez, Thomas Meresse, Florian Nadon, Christian Herlin, Ignacio Garrido, Jean-Louis Grolleau
Plast Reconstr Surg Glob Open. 2013 Sep; 1(6): e46. Published online 2013 Oct 7. doi: 10.1097/GOX.0b013e3182a8c597
PMCID:
PMC4174163
ArticlePDF–1.6M
5.
M to T Rearrangement: An Approach to Correct Webbed Neck Deformity
Ananth S. Murthy, Margeaux McGraw
Case Rep Med. 2014; 2014: 682806. Published online 2014 Jan 9. doi: 10.1155/2014/682806
PMCID:
PMC3912634
ArticlePDF–1.3M
6.
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
Jéssica Silva Soares, Renata Maria Rabello da Silva Lago, Maria Betânia Pereira Toralles, Laís Ribeiro Mota, Esmeralda Santos Alves, Acácia Fernandes Lacerda de Carvalho
Arch Endocrinol Metab. 2021; 65(6): 739–746. Published online 2021 Nov 11. doi: 10.20945/2359-3997000000403
PMCID:
PMC10065388
ArticlePDF–351K
7.
Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Marjaneh Zarkesh, Alireza Tarang, Nejat Mahdieh
Hum Genomics. 2023; 17: 12. Published online 2023 Feb 20. doi: 10.1186/s40246-023-00460-0
PMCID:
PMC9940353
ArticlePDF–1.0M
8.
Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report
Ayumi Omori, Kan Katayama, Ryosuke Saiki, Satoru Masui, Kei Suzuki, Yoshinori Kanii, Kayo Tsujimoto, Shiro Nakamori, Tairo Kurita, Tomohiro Murata, Takahiro Inoue, Kaoru Dohi
BMC Nephrol. 2022; 23: 65. Published online 2022 Feb 12. doi: 10.1186/s12882-022-02671-4
PMCID:
PMC8841073
ArticlePDF–2.2M
9.
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review
Shanshan Liu, Meiping Chen, Hongbo Yang, Shi Chen, Linjie Wang, Lian Duan, Huijuan Zhu, Hui Pan
Front Endocrinol (Lausanne) 2021; 12: 776835. Published online 2021 Dec 9. doi: 10.3389/fendo.2021.776835
PMCID:
PMC8695685
ArticlePDF–2.8M
10.
Mosaic trisomy 22 in a 4‐year‐old boy with congenital heart disease and general hypotrophy: A case report
Samira Kalayinia, Tina Shahani, Alireza Biglari, Majid Maleki, Hassan Rokni‐Zadeh, Zahra Razavi, Nejat Mahdieh
J Clin Lab Anal. 2019 Feb; 33(2): e22663. Published online 2018 Sep 26. doi: 10.1002/jcla.22663
PMCID:
PMC7938395
ArticlePDF–525K
11.
CYTOGENETICS FINDINGS AT TURNER SYNDROME AND THEIR CORRELATION WITH CLINICAL FINDINGS
Amra Ćatovič
Bosn J Basic Med Sci. 2005 Aug; 5(3): 54–58. doi: 10.17305/bjbms.2005.3271
PMCID:
PMC7202146
ArticlePDF–360K
12.
Defining language disorders in children and adolescents with Noonan Syndrome
Giulia Lazzaro, Cristina Caciolo, Deny Menghini, Francesca Cumbo, Maria C. Digilio, Rossella Capolino, Giuseppe Zampino, Marco Tartaglia, Stefano Vicari, Paolo Alfieri
Mol Genet Genomic Med. 2020 Apr; 8(4): e1069. Published online 2020 Feb 14. doi: 10.1002/mgg3.1069
PMCID:
PMC7196479
ArticlePDF–628K
13.
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants
Jianling Ji, Lishuang Shen, Moiz Bootwalla, Catherine Quindipan, Tatiana Tatarinova, Dennis T. Maglinte, Jonathan Buckley, Gordana Raca, Sulagna C. Saitta, Jaclyn A. Biegel, Xiaowu Gai
Cold Spring Harb Mol Case Stud. 2019 Apr; 5(2): a003756. doi: 10.1101/mcs.a003756
PMCID:
PMC6549575
ArticlePDF–3.3M
14.
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez
J Clin Res Pediatr Endocrinol. 2019 Mar; 11(1): 88–93. Published online 2019 Feb 20. doi: 10.4274/jcrpe.galenos.2018.2018.0005
PMCID:
PMC6398186
ArticlePDF–1.5M
15.
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing
Andrew R. Grant, Sarah E. Hemphill, Lisa M. Vincent, Heidi L. Rehm
Cold Spring Harb Mol Case Stud. 2018 Oct; 4(5): a002675. doi: 10.1101/mcs.a002675
PMCID:
PMC6169827
ArticlePDF–432K
16.
A Homozygous B3GAT3 Mutation Causes a Severe Syndrome with Multiple Fractures, Extending the Number of Linkeropathy Syndromes
Kelly L. Jones, Ulrike Schwarze, Margaret P. Adam, Peter H. Byers, Heather C. Mefford
Am J Med Genet A. Author manuscript; available in PMC 2015 Nov 21.
Published in final edited form as: Am J Med Genet A. 2015 Nov; 167(11): 2691–2696. Published online 2015 Jun 18. doi: 10.1002/ajmg.a.37209
PMCID:
PMC4654953
ArticlePDF–689K
17.
A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype
Jonathan M Swartz, Aysehan Akinci, Shayne F. Andrew, Ahmet Siğirci, Joel N Hirschhorn, Ron G Rosenfeld, Andrew Dauber, Vivian Hwa
Horm Res Paediatr. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Horm Res Paediatr. 2014; 82(5): 344–352. Published online 2014 Nov 1. doi: 10.1159/000368192
PMCID:
PMC4329776
ArticlePDF–413K
18.
Noonan Syndrome
VIKAS BHAMBHANI, MAXIMILIAN MUENKE
Am Fam Physician. Author manuscript; available in PMC 2014 Jul 15.
Published in final edited form as: Am Fam Physician. 2014 Jan 1; 89(1): 37–43.
PMCID:
PMC4099190
ArticlePDF–635K
19.
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
M E P van den Elzen, S R F Twigg, J A C Goos, A J M Hoogeboom, A M W van den Ouweland, A O M Wilkie, I M J Mathijssen
Eur J Hum Genet. 2014 Aug; 22(8): 995–1001. Published online 2013 Nov 27. doi: 10.1038/ejhg.2013.273
PMCID:
PMC4096149
ArticlePDF–701K
20.
Generalized epilepsy in a patient with mosaic Turner syndrome: a case report
Kai-Ming Jhang, Tung-Ming Chang, Ming Chen, Chin-San Liu
J Med Case Rep. 2014; 8: 109. Published online 2014 Apr 2. doi: 10.1186/1752-1947-8-109
PMCID:
PMC4008388
ArticlePDF–614K

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