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Items: 1 to 20 of 85

1.
SOFT syndrome with Kohlschutter–Tonz syndrome
SA Mondkar, V Khadilkar, P Kasegaonkar, A Khadilkar
J Postgrad Med. 2024 Jan-Mar; 70(1): 56–59. Published online 2023 Sep 7. doi: 10.4103/jpgm.jpgm_1001_22
PMCID:
PMC10947733
AbstractArticle
2.
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis
Hugo H. Abarca-Barriga, Renzo Punil Luciano, Flor Vásquez Sotomayor
Genes (Basel) 2023 Dec; 14(12): 2212. Published online 2023 Dec 14. doi: 10.3390/genes14122212
PMCID:
PMC10742884
AbstractArticlePDF–4.1M
3.
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
AbstractArticlePDF–1.2M
4.
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature
Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee
Mol Genet Genomic Med. 2023 Apr; 11(4): e2127. Published online 2022 Dec 23. doi: 10.1002/mgg3.2127
PMCID:
PMC10094073
AbstractArticlePDF–2.1M
5.
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev, Ohad Wormser, Eitan Shavit, Libe Gradstein, Ilan Shelef, Aanalia Mijalovsky, Hagit Flusser, Ohad S. Birk
Clin Genet. 2022 Aug; 102(2): 123–129. Published online 2022 May 5. doi: 10.1111/cge.14143
PMCID:
PMC9545274
AbstractArticlePDF–1.4M
6.
Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion
Yerai Vado, Arrate Pereda, Isabel Llano-Rivas, Nerea Gorria-Redondo, Ignacio Díez, Guiomar Perez de Nanclares
Genes (Basel) 2020 Dec; 11(12): 1461. Published online 2020 Dec 5. doi: 10.3390/genes11121461
PMCID:
PMC7762056
AbstractArticlePDF–2.3M
7.
The Effect of Combined Growth Hormone and a Gonadotropin-Releasing Hormone Agonist Therapy on Height in Korean 3-M Syndrome Siblings
In Kyung Lee, Han Hyuk Lim, Yoo-Mi Kim
Yonsei Med J. 2020 Nov 1; 61(11): 981–985. Published online 2020 Oct 22. doi: 10.3349/ymj.2020.61.11.981
PMCID:
PMC7593105
AbstractArticlePDF–683K
8.
Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
BMC Med Genomics. 2018; 11: 124. Published online 2018 Dec 27. doi: 10.1186/s12920-018-0441-z
PMCID:
PMC6307281
AbstractArticlePDF–920K
9.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
Joshi Stephen, Sateesh Maddirevula, Sheela Nampoothiri, John D. Burke, Matthew Herzog, Anju Shukla, Katharina Steindl, Ascia Eskin, Siddaramappa J. Patil, Pascal Joset, Hane Lee, Lisa. J. Garrett, Tadafumi Yokoyama, Nicholas Balanda, Steven P. Bodine, Nathanial J. Tolman, Patricia M. Zerfas, Allison Zheng, Georgia Ramantani, Katta M. Girisha, Cecilia Rivas, Pujar V. Suresh, Abdel Elkahloun, Hessa S. Alsaif, Salma M. Wakil, Laila Mahmoud, Rehab Ali, Michaela Prochazkova, Undiagnosed Diseases Network members, Ashok B. Kulkarni, Tawfeg Ben-Omran, Dilek Colak, H. Douglas Morris, Anita Rauch, Julian A. Martinez-Agosto, Stanley F. Nelson, Fowzan S. Alkuraya, William A. Gahl, May Christine V. Malicdan
Am J Hum Genet. 2018 Dec 6; 103(6): 948–967. Published online 2018 Dec 6. doi: 10.1016/j.ajhg.2018.11.001
PMCID:
PMC6288279
AbstractArticlePDF–3.4M
10.
Further delineation of Malan syndrome
Manuela Priolo, Denny Schanze, Katrin Tatton‐Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapia, Sally Davies, Nataliya Di Donato, Nursel H. Elcioglu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann‐Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda M. Mirzaa, Tara Montgomery, Dorothee Neubauer, Thomas E. Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Maria Valdez, Arie Van Haeringen, Johanna M. Van Hagen, Marcela Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. Hennekam
Hum Mutat. 2018 Sep; 39(9): 1226–1237. Published online 2018 Jun 25. doi: 10.1002/humu.23563
PMCID:
PMC6175110
AbstractArticlePDF–751K
11.
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium–glucose cotransporter 2 inhibitor
Tetsushi Hamaguchi, Yushi Hirota, Takehito Takeuchi, Yasushi Nakagawa, Atsuko Matsuoka, Masaaki Matsumoto, Hiroyuki Awano, Kazumoto Iijima, Pei Chieng Cha, Wataru Satake, Tatsushi Toda, Wataru Ogawa
J Diabetes Investig. 2018 Sep; 9(5): 1224–1227. Published online 2018 Mar 25. doi: 10.1111/jdi.12825
PMCID:
PMC6123033
AbstractArticlePDF–752K
12.
Distinct 15q Genotypes in Russell-Silver and Ring 15 Syndromes
Peter K. Rogan, James R. Seip, Daniel J. Driscoll, Peter R. Papenhausen, Virginia P. Johnson, Salmo Raskin, Amy L. Woodward, Merlin G. Butler
Am J Med Genet. Author manuscript; available in PMC 2018 Jun 4.
Published in final edited form as: Am J Med Genet. 1996 Mar 1; 62(1): 10–15. doi: 10.1002/(SICI)1096-8628(19960301)62:1<10::AID-AJMG3>3.0.CO;2-#
PMCID:
PMC5986579
AbstractArticlePDF–417K
13.
A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature
C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, R. C. Ediriweera, P. Kruszka, M. Muenke, V. H. W. Dissanayake
BMC Med Genomics. 2018; 11: 44. Published online 2018 May 8. doi: 10.1186/s12920-018-0366-6
PMCID:
PMC5941489
AbstractArticlePDF–3.2M
14.
Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature
R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam, V. H. W. Dissanayake
BMC Pediatr. 2018; 18: 4. Published online 2018 Jan 8. doi: 10.1186/s12887-017-0980-z
PMCID:
PMC5759277
AbstractArticlePDF–607K
15.
KBG syndrome
Dayna Morel Swols, Joseph Foster, II, Mustafa Tekin
Orphanet J Rare Dis. 2017; 12: 183. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0736-8
PMCID:
PMC5735576
AbstractArticlePDF–921K
16.
Confirmation of the pathogenicity of a mutation p.G337C in the COL1A2 gene associated with osteogenesis imperfecta
Mingrui Jia, Ranran Shi, Xuli Zhao, Zhijian Fu, Zhijing Bai, Tao Sun, Xuejun Zhao, Wenbo Wang, Chao Xu, Fang Yan
Medicine (Baltimore) 2017 Sep; 96(39): e7783. Published online 2017 Sep 29. doi: 10.1097/MD.0000000000007783
Correction in:
Medicine (Baltimore). 2017 Oct; 96(42): e8442.
PMCID:
PMC5626253
AbstractArticlePDF–1.0M
17.
Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects
Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami
Clin Epigenetics. 2017; 9: 52. Published online 2017 May 15. doi: 10.1186/s13148-017-0350-6
PMCID:
PMC5433143
AbstractArticlePDF–1.1M
18.
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
Melikşah Keskin, Nursel Muratoğlu Şahin, Erdal Kurnaz, Elvan Bayramoğlu, Şenay Savaş Erdeve, Zehra Aycan, Semra Çetinkaya
J Clin Res Pediatr Endocrinol. 2017 Mar; 9(1): 91–94. Published online 2017 Mar 1. doi: 10.4274/jcrpe.3238
Correction in:
J Clin Res Pediatr Endocrinol. 2019 Mar; 11(1): 109.
PMCID:
PMC5363173
AbstractArticlePDF–391K
19.
Brief Clinical Report and Review: Two Patients With Ring Chromosome 15 Syndrome
Merlin G. Butler, Agnes B. Fogo, David A. Fuchs, Francis S. Collins, Viathilingam G. Dev, John A. Phillips, III
Am J Med Genet. Author manuscript; available in PMC 2016 Oct 27.
Published in final edited form as: Am J Med Genet. 1988 Jan; 29(1): 149–154. doi: 10.1002/ajmg.1320290119
PMCID:
PMC5083070
AbstractArticlePDF–1.0M
20.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra
Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253
Correction in:
Eur J Hum Genet. 2015 Sep; 23(9): 1270.
PMCID:
PMC4538199
AbstractArticlePDF–1.9M

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