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Select item 54331431.

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

Abstract Article PDF–1.1M

Select item 36530942.

First Korean Family with a Mutation in TPM2 Associated with Sheldon-Hall Syndrome

Jung Min Ko, In-Ho Choi, Goo-Hyun Baek, Kee-Won Kim

J Korean Med Sci. 2013 May; 28(5): 780–783. Published online 2013 May 2. doi: 10.3346/jkms.2013.28.5.780

PMCID:: PMC3653094

Abstract Article PDF–1.0M

Select item 41700883.

Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes

Alicia Cervantes, Constanza García-Delgado, Fernando Fernández-Ramírez, Carolina Galaz-Montoya, Ariadna Berenice Morales-Jiménez, Karem Nieto-Martínez, Laura Gómez-Laguna, Judith Villa-Morales, Mónica Quintana-Palma, Jaime Berúmen, Susana Kofman, Verónica F Morán-Barroso

BMC Med Genomics. 2014; 7: 55. Published online 2014 Sep 15. doi: 10.1186/1755-8794-7-55

PMCID:: PMC4170088

Abstract Article PDF–2.2M

Select item 45381994.

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

Abstract Article PDF–1.9M

Select item 83798285.

Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report

Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao

BMC Med Genomics. 2021; 14: 207. Published online 2021 Aug 21. doi: 10.1186/s12920-021-01055-1

PMCID:: PMC8379828

Abstract Article PDF–1.1M

Select item 79272666.

A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome

Jing Chen, Zhongmin Xia, Yulin Zhou, Xiaomin Ma, Xudong Wang, Qiwei Guo

BMC Med Genomics. 2021; 14: 68. Published online 2021 Mar 2. doi: 10.1186/s12920-021-00920-3

PMCID:: PMC7927266

Abstract Article PDF–1.5M

Select item 77620567.

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

Abstract Article PDF–2.3M

Select item 50830708.

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

Abstract Article PDF–1.0M

Select item 75931059.

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

Abstract Article PDF–683K

Select item 536317310.

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

Abstract Article PDF–391K

Select item 101589411.

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

H J Stern, H M Saal, J S Lee, P R Fain, D E Goldgar, K N Rosenbaum, D F Barker

J Med Genet. 1992 Mar; 29(3): 184–187. doi: 10.1136/jmg.29.3.184

PMCID:: PMC1015894

Summary Page Browse PDF–916K

Select item 562625312.

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

Abstract Article PDF–1.0M

Select item 630728113.

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

Abstract Article PDF–920K

Select item 628827914.

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

Abstract Article PDF–3.4M

Select item 617511015.

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

Abstract Article PDF–751K

Select item 612303316.

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