PMC Articles for MedGen (Select 867027) - PMC

Select item 65655521.

Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4

Gerarda Cappuccio, Raffaella Brunetti‐Pierri, Annalaura Torella, Michele Pinelli, Raffaele Castello, Giorgio Casari, Vincenzo Nigro, Sandro Banfi, Francesca Simonelli, TUDP, Nicola Brunetti‐Pierri

Mol Genet Genomic Med. 2019 Jun; 7(6): e682. Published online 2019 Apr 11. doi: 10.1002/mgg3.682

PMCID:: PMC6565552

Abstract Article PDF–406K

Select item 62758632.

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling

Shengzhen Guo, Jian Zhou, Bo Gao, Jianxin Hu, Hongsheng Wang, Junwei Meng, Xinzhi Zhao, Gang Ma, Chuwen Lin, Yue Xiao, Wei Tang, Xuming Zhu, Kathryn S.E. Cheah, Guoying Feng, Danny Chan, Lin He

Cell Mol Biol Lett. 2010 Mar; 15(1): 153–176. Published online 2009 Dec 20. doi: 10.2478/s11658-009-0040-2

PMCID:: PMC6275863

Summary PDF–20M

Select item 48865523.

Genotype–Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/ PIGN-Related Epilepsy

Leah Fleming, Monica Lemmon, Natalie Beck, Maria Johnson, Weiyi Mu, David Murdock, Joann Bodurtha, Julie Hoover-Fong, Ronald Cohn, Thangamadhan Bosemani, Kristin Barañano, Ada Hamosh

Am J Med Genet A. Author manuscript; available in PMC 2016 May 31.

Published in final edited form as: Am J Med Genet A. 2016 Jan; 170A(1): 77–86. Published online 2015 Sep 23. doi: 10.1002/ajmg.a.37369

PMCID:: PMC4886552

Abstract Article PDF–626K

Select item 40374014.

Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome

W. Zhao, E. Petit, R. I. Gafni, M. T. Collins, P. G. Robey, M. Seton, K. K. Miller, M. Mannstadt

Osteoporos Int. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Osteoporos Int. 2013 Aug; 24(8): 2275–2281. Published online 2013 Feb 7. doi: 10.1007/s00198-013-2298-5

PMCID:: PMC4037401

Abstract Article PDF–643K

Select item 36530945.

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 25980536.

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Louise S Bicknell, Claire Farrington‐Rock, Yousef Shafeghati, Patrick Rump, Yasemin Alanay, Yves Alembik, Navid Al‐Madani, Helen Firth, Mohammad Hassan Karimi‐Nejad, Chong Ae Kim, Kathryn Leask, Melissa Maisenbacher, Ellen Moran, John G Pappas, Paolo Prontera, Thomy de Ravel, Jean‐Pierre Fryns, Elizabeth Sweeney, Alan Fryer, Sheila Unger, L C Wilson, Ralph S Lachman, David L Rimoin, Daniel H Cohn, Deborah Krakow, Stephen P Robertson

J Med Genet. 2007 Feb; 44(2): 89–98. Published online 2006 Jun 26. doi: 10.1136/jmg.2006.043687

PMCID:: PMC2598053

Abstract Article PDF–1.0M

Select item 17345587.

Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles

C Armour, D Bulman, A Hunter

J Med Genet. 2000 Apr; 37(4): 292–296. doi: 10.1136/jmg.37.4.292

PMCID:: PMC1734558

Summary PDF–200K

Select item 10162768.

Brachymorphism-onychodysplasia-dysphalangism syndrome.

A Verloes, D Bonneau, O Guidi, M Berthier, D Oriot, L Van Maldergem, L Koulischer

J Med Genet. 1993 Feb; 30(2): 158–161. doi: 10.1136/jmg.30.2.158

PMCID:: PMC1016276

Summary Page Browse PDF–1.4M

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