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Items: 1 to 20 of 45

1.
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong
J Clin Res Pediatr Endocrinol. 2023 Dec; 15(4): 438–443. Published online 2023 Nov 22. doi: 10.4274/jcrpe.galenos.2022.2021-12-24
PMCID:
PMC10683535
ArticlePDF–1.2M
2.
Pneumonia-Induced Thyroid Crisis With Thyrotoxicosis Exacerbation: De Novo Graves' Disease Presentation on a Cornelia de Lange Syndrome (CdLS)
Jorge Pimentel Campillo, Daneybi Corona Castillo, Marco Nunez, Ana Finke Abbott, Jesús Pichardo
Cureus. 2023 Jun; 15(6): e41119. Published online 2023 Jun 28. doi: 10.7759/cureus.41119
PMCID:
PMC10382790
ArticlePDF–591K
3.
Lethal multiple pterygium syndrome in a newborn, a case report
Parvaneh Sadeghimoghadam, Saeedeh Shirdel, Sedigheh Hantoushzadeh, Zeinab Hashemi, Marjan Ghaemi
Clin Case Rep. 2023 Jul; 11(7): e7678. Published online 2023 Jul 12. doi: 10.1002/ccr3.7678
PMCID:
PMC10337520
ArticlePDF–461K
4.
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review
Meng Yuan, Yuanyuan Shan, Fanshu Xu, Lin Yang, Chengjun Sun, Ruoqian Cheng, Bingbing Wu, Zhehuan Zhang, Yun Cao, Rong Zhang, Wenhao Zhou, Guoqiang Cheng, Liyuan Hu
Transl Pediatr. 2023 Jan 31; 12(1): 86–96. Published online 2023 Jan 10. doi: 10.21037/tp-22-220
PMCID:
PMC9926125
ArticlePDF–869K
5.
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
ArticlePDF–1.2M
6.
Prenatal presentation of multiple anomalies associated with haploinsufficiency for ARID1A
Anne Slavotinek, Mathilde Lefebvre, Anne-Claire Brehin, Christel Thauvin, Sophie Patrier, Teresa N. Sparks, Mary Norton, Jingwei Yu, Eric Huang
Eur J Med Genet. Author manuscript; available in PMC 2023 Feb 1.
Published in final edited form as: Eur J Med Genet. 2022 Feb; 65(2): 104407. Published online 2021 Dec 20. doi: 10.1016/j.ejmg.2021.104407
PMCID:
PMC9162882
ArticlePDF–778K
7.
Oral Facial Manifestations of Sanjad–Sakati Syndrome: A Literature Review
Sara Alghamdi
Children (Basel) 2022 Apr; 9(4): 448. Published online 2022 Mar 22. doi: 10.3390/children9040448
PMCID:
PMC9028158
ArticlePDF–929K
8.
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature
Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli
BMC Neurol. 2022; 22: 118. Published online 2022 Mar 24. doi: 10.1186/s12883-022-02618-0
PMCID:
PMC8943937
ArticlePDF–1.1M
9.
Lack of Catch-Up Growth with Growth Hormone Treatment in a Child Born Small for Gestational Age Leading to a Diagnosis of Noonan Syndrome with a Pathogenic PTPN11 Variant
Daniel J. Olivieri, Lauren J. Massingham, Jennifer L. Schwab, Jose Bernardo Quintos
Case Rep Endocrinol. 2021; 2021: 5571524. Published online 2021 Jun 7. doi: 10.1155/2021/5571524
PMCID:
PMC8203378
ArticlePDF–1.1M
10.
Radiologic anatomy of the round window relevant to cochlear implantation and inner ear drug delivery
Peter L. Nguy, Sheela Saidha, Ann Jay, H. Jeffrey Kim, Michael Hoa
World J Otorhinolaryngol Head Neck Surg. 2021 Jan; 7(1): 9–16. Published online 2020 Jun 20. doi: 10.1016/j.wjorl.2018.12.003
PMCID:
PMC7801246
ArticlePDF–1.0M
11.
A Very Rare Partial Trisomy Syndrome: De Novo Duplication of 16q12.1q23.3 in a Turkish Girl with Developmental Delay and Facial Dysmorphic Features
A Türkyılmaz, O Yaralı
Balkan J Med Genet. 2020 Jun; 23(1): 103–108. Published online 2020 Aug 26. doi: 10.2478/bjmg-2020-0009
PMCID:
PMC7474222
ArticlePDF–2.5M
12.
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations
Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque, Swathi Shetty
BMC Med Genet. 2020; 21: 50. Published online 2020 Mar 12. doi: 10.1186/s12881-020-0986-5
PMCID:
PMC7068896
ArticlePDF–3.3M
13.
Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen‐de Vries syndrome
Zhuoguang Li, Caiqi Du, Cai Zhang, Mini Zhang, Yanqin Ying, Yan Liang, Xiaoping Luo
Mol Genet Genomic Med. 2020 Mar; 8(3): e1120. Published online 2020 Jan 8. doi: 10.1002/mgg3.1120
PMCID:
PMC7057113
ArticlePDF–689K
14.
Smith–Lemli–Opitz syndrome presenting as acute adrenal crisis in a child: a case report
Chamara Jayamanne, Sajith Sandamal, Kasun Jayasundara, Mayoorathy Saranavabavananthan, Sachith Mettananda
J Med Case Rep. 2018; 12: 217. Published online 2018 Aug 10. doi: 10.1186/s13256-018-1738-4
PMCID:
PMC6085650
ArticlePDF–535K
15.
Placental Histomorphology in a Case of Double Trisomy 48,XXX,+18
Sujal I. Shah, Lisa Dyer, Jerzy Stanek
Case Rep Pathol. 2018; 2018: 2839765. Published online 2018 Mar 8. doi: 10.1155/2018/2839765
PMCID:
PMC5863320
ArticlePDF–3.4M
16.
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
J Med Genet. 2018 Jan; 55(1): 28–38. Published online 2017 Oct 11. doi: 10.1136/jmedgenet-2017-104620
PMCID:
PMC5749303
ArticlePDF–1.3M
17.
De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report
Muna A. Al Dhaibani, Diane Allingham-Hawkins, Ayman W. El-Hattab
BMC Med Genet. 2017; 18: 118. Published online 2017 Oct 23. doi: 10.1186/s12881-017-0482-8
PMCID:
PMC5654040
ArticlePDF–644K
18.
A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42
Ali VAHABI, Filiz HAZAN, Isa Abdi RAD
Maedica (Bucur) 2017 Jan; 12(1): 55–58.
PMCID:
PMC5574076
ArticlePDF–591K
19.
Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
Javad Karimzad Hagh, Thomas Liehr, Hamid Ghaedi, Mir Majid Mossalaeie, Shohreh Alimohammadi, Faegheh Inanloo Hajiloo, Zahra Moeini, Sadaf Sarabi, Davood Zare-Abdollahi
Int J Mol Cell Med. 2017 Winter; 6(1): 61–65. Published online 2017 Jan 17.
PMCID:
PMC5568194
ArticlePDF–1.2M
20.
A Novel Rasopathy Caused by Recurrent De Novo Missense Mutations In PPP1CB Closely Resembles Noonan Syndrome with Loose Anagen Hair
Karen W. Gripp, Kimberly A. Aldinger, James T. Bennett, Laura Baker, Jessica Tusi, Nina Powell-Hamilton, Deborah Stabley, Katia Sol-Church, Andrew E. Timms, William B. Dobyns
Am J Med Genet A. Author manuscript; available in PMC 2016 Dec 2.
Published in final edited form as: Am J Med Genet A. 2016 Sep; 170(9): 2237–2247. Published online 2016 Jun 5. doi: 10.1002/ajmg.a.37781
PMCID:
PMC5134331
ArticlePDF–1.1M

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