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Items: 1 to 20 of 22

1.
Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives
Sanjukta Basak, Ajoy Basak
Biosci Rep. 2022 Jun 30; 42(6): BSR20220610. Published online 2022 Jun 17. doi: 10.1042/BSR20220610
PMCID:
PMC9208313
ArticlePDF–1.3M
2.
Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Dai Yang-Li, Luo Fei-Hong, Zhang Hui-Wen, Ma Ming-Sheng, Luo Xiao-Ping, Liu Li, Wang Yi, Zhou Qing, Jiang Yong-Hui, Zou Chao-Chun, PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS
Orphanet J Rare Dis. 2022; 17: 221. Published online 2022 Jun 13. doi: 10.1186/s13023-022-02302-z
PMCID:
PMC9195308
ArticlePDF–986K
3.
Case Report: Hepatic Adenomatosis in a Patient With Prader–Willi Syndrome
Hajar Dauleh, Ali Soliman, Basma Haris, Amal Khalifa, Noor Al Khori, Khalid Hussain
Front Endocrinol (Lausanne) 2022; 13: 826772. Published online 2022 Mar 9. doi: 10.3389/fendo.2022.826772
PMCID:
PMC8959895
ArticlePDF–1.4M
4.
Impact of genetic subtypes of Prader–Willi syndrome with growth hormone therapy on intelligence and body mass index
Merlin G. Butler, Naomi A. Matthews, Nidhi Patel, Abhilasha Surampalli, June-Anne Gold, Manaswitha Khare, Travis Thompson, Suzanne B. Cassidy, Virginia E. Kimonis
Am J Med Genet A. Author manuscript; available in PMC 2020 Dec 15.
Published in final edited form as: Am J Med Genet A. 2019 Sep; 179(9): 1826–1835. Published online 2019 Jul 16. doi: 10.1002/ajmg.a.61293
PMCID:
PMC7737232
ArticlePDF–608K
5.
Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update
Merlin G. Butler, Jennifer L. Miller, Janice L. Forster
Curr Pediatr Rev. 2019 Nov; 15(4): 207–244. Published online 2019 Nov. doi: 10.2174/1573396315666190716120925
PMCID:
PMC7040524
ArticlePDF–3.0M
6.
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Orphanet J Rare Dis. 2019; 14: 277. Published online 2019 Dec 2. doi: 10.1186/s13023-019-1249-4
PMCID:
PMC6888944
ArticlePDF–991K
7.
Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series
Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
BMC Med Genet. 2019; 20: 167. Published online 2019 Oct 29. doi: 10.1186/s12881-019-0893-9
PMCID:
PMC6819644
ArticlePDF–1.3M
8.
Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches
Merlin G. Butler, Ann M. Manzardo, Janice L. Forster
Curr Pediatr Rev. Author manuscript; available in PMC 2019 Sep 12.
Published in final edited form as: Curr Pediatr Rev. 2016; 12(2): 136–166. doi: 10.2174/1573396312666151123115250
PMCID:
PMC6742515
ArticlePDF–351K
9.
Prader-Willi syndrome and atypical submicroscopic 15q11-q13 deletions with or without imprinting defects
Maaz Hassan, Merlin G. Butler
Eur J Med Genet. Author manuscript; available in PMC 2019 Aug 9.
Published in final edited form as: Eur J Med Genet. 2016 Nov; 59(11): 584–589. Published online 2016 Sep 19. doi: 10.1016/j.ejmg.2016.09.017
PMCID:
PMC6688621
ArticlePDF–499K
10.
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1
Young A Kim, Hye Young Jin, Yoo-Mi Kim
J Korean Med Sci. 2019 Mar 11; 34(9): e54. Published online 2019 Feb 7. doi: 10.3346/jkms.2019.34.e54
PMCID:
PMC6406039
ArticlePDF–1.5M
11.
Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes
Ranim Mahmoud, Preeti Singh, Lan Weiss, Anita Lakatos, Melanie Oakes, Waheeda Hossain, Merlin G. Butler, Virginia Kimonis
Am J Med Genet A. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Am J Med Genet A. 2019 Jan; 179(1): 29–36. Published online 2018 Dec 17. doi: 10.1002/ajmg.a.60681
PMCID:
PMC6347555
ArticlePDF–300K
12.
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family
Keze Ma, Mingyu Xie, Xiaoguang He, Guojun Liu, Xiaomei Lu, Qi Peng, Baimao Zhong, Ning Li
BMC Med Genet. 2018; 19: 202. Published online 2018 Nov 20. doi: 10.1186/s12881-018-0689-3
PMCID:
PMC6247698
ArticlePDF–1.7M
13.
Prader-Willi syndrome due to an unbalanced de novo translocation [t(15;19)(q12;p13.3)]
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold, Virginia Kimonis
Cytogenet Genome Res. Author manuscript; available in PMC 2018 Feb 14.
Published in final edited form as: Cytogenet Genome Res. 2016; 150(1): 29–34. Published online 2016 Nov 29. doi: 10.1159/000452611
PMCID:
PMC5812461
ArticlePDF–342K
14.
Ghrelin, peptide YY and their receptors: Gene expression in brain from subjects with and without Prader-Willi syndrome
ZOHREH TALEBIZADEH, NATALIYA KIBIRYEVA, DOUGLAS C. BITTEL, MERLIN G. BUTLER
Int J Mol Med. Author manuscript; available in PMC 2017 Jun 5.
Published in final edited form as: Int J Mol Med. 2005 Apr; 15(4): 707–711.
PMCID:
PMC5459610
ArticlePDF–445K
15.
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings
M. A. Angulo, M. G. Butler, M. E. Cataletto
J Endocrinol Invest. 2015; 38: 1249–1263. Published online 2015 Jun 11. doi: 10.1007/s40618-015-0312-9
PMCID:
PMC4630255
ArticlePDF–855K
16.
Growth Hormone Receptor (GHR) Gene Polymorphism and Prader-Willi Syndrome
Merlin G. Butler, Jennifer Roberts, Jena Hayes, Xiaoyu Tan, Ann M. Manzardo
Am J Med Genet A. Author manuscript; available in PMC 2014 Jul 1.
Published in final edited form as: Am J Med Genet A. 2013 Jul; 161(7): 1647–1653. Published online 2013 May 21. doi: 10.1002/ajmg.a.35980
PMCID:
PMC3689873
ArticlePDF–2.7M
17.
Does Pseudohypoaldosteronism Mask the Diagnosis of Congenital Adrenal Hyperplasia?
Sebahat Yılmaz Ağladıoğlu, Zehra Aycan, Havva Nur Peltek Kendirci, Nilgün Erkek, Veysel Nijat Baş
J Clin Res Pediatr Endocrinol. 2011 Dec; 3(4): 219–221. Published online 2011 Dec 6. doi: 10.4274/jcrpe.369
PMCID:
PMC3245498
ArticlePDF–63K
18.
Prader–Willi syndrome
Suzanne B Cassidy, Daniel J Driscoll
Eur J Hum Genet. 2009 Jan; 17(1): 3–13. Published online 2008 Sep 10. doi: 10.1038/ejhg.2008.165
PMCID:
PMC2985966
ArticlePDF–512K
19.
An Interstitial 15q11-q14 Deletion: Expanded Prader-Willi Syndrome Phenotype
Merlin G. Butler, Douglas C. Bittel, Nataliya Kibiryeva, Linda D. Cooley, Shihui Yu
Am J Med Genet A. Author manuscript; available in PMC 2011 Feb 1.
Published in final edited form as: Am J Med Genet A. 2010 Feb; 152A(2): 404–408. doi: 10.1002/ajmg.a.33197
Correction in:
volume 152A on page 1331
PMCID:
PMC2814996
ArticlePDF–178K
20.
G and P Genotyping of Human Rotavirus Isolated in a University Hospital in Korea: Implications for Nosocomial Infections
Jung Oak Kang, Chang Ryul Kim, Paul E Kilgore, Tae Yeal Choi
J Korean Med Sci. 2006 Dec; 21(6): 983–988. Published online 2006 Dec 31. doi: 10.3346/jkms.2006.21.6.983
PMCID:
PMC2721951
ArticlePDF–89K

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