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Items: 20

Select item 42810311.

Forme fruste of Proteus syndrome: A limited form with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation

Jamie S. Wee, Peter S. Mortimer, Marjorie J. Lindhurst, Heung Chong, Leslie G. Biesecker, Colin A. Holden

JAMA Dermatol. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: JAMA Dermatol. 2014 Sep; 150(9): 990–993. doi: 10.1001/jamadermatol.2013.10368

PMCID:: PMC4281031

Abstract Article PDF–844K

Select item 3791962.

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin

David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, Donna M. Martin, Peter J. Strouse, Sayoko E. Moroi, Jeff M. Milunsky, Marci M. Lesperance

Am J Hum Genet. 2002 Sep; 71(3): 618–624. Published online 2002 Jun 27. doi: 10.1086/342067

PMCID:: PMC379196

Abstract Article PDF–423K

Select item 10133593.

Trigonocephaly and associated minor anomalies in mother and son.

A G Hunter, N L Rudd, H J Hoffmann

J Med Genet. 1976 Feb; 13(1): 77–79. doi: 10.1136/jmg.13.1.77

PMCID:: PMC1013359

Summary Page Browse PDF–842K

Select item 10137574.

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

M W Spence, J T Clarke, D M D'Entremont, G A Sapp, E R Smith, A L Goldbloom, G Davar

J Med Genet. 1978 Dec; 15(6): 428–434. doi: 10.1136/jmg.15.6.428

PMCID:: PMC1013757

Summary Page Browse PDF–1017K

Select item 10154545.

Absence of a lateral rectus muscle associated with duplication of the chromosome segment 7q32----q34.

C G Keith, G C Webb, J G Rogers

J Med Genet. 1988 Feb; 25(2): 122–125. doi: 10.1136/jmg.25.2.122

PMCID:: PMC1015454

Summary Page Browse PDF–1.1M

Select item 10496346.

Type II syndactyly or synpolydactyly.

P Merlob, M Grunebaum

J Med Genet. 1986 Jun; 23(3): 237–241. doi: 10.1136/jmg.23.3.237

PMCID:: PMC1049634

Summary Page Browse PDF–1.0M

Select item 10501277.

Intrachromosomal triplication of 15q11-q13.

A A Schinzel, L Brecevic, F Bernasconi, F Binkert, F Berthet, A Wuilloud, W P Robinson

J Med Genet. 1994 Oct; 31(10): 798–803. doi: 10.1136/jmg.31.10.798

PMCID:: PMC1050127

Summary Page Browse PDF–1.4M

Select item 16337308.

Morphological features in a Xhosa schizophrenia population

Liezl Koen, Dana JH Niehaus, Greetje De Jong, Jacqueline E Muller, Esme Jordaan

BMC Psychiatry. 2006; 6: 47. Published online 2006 Oct 27. doi: 10.1186/1471-244X-6-47

PMCID:: PMC1633730

Abstract Article PDF–222K

Select item 17125189.

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

M. Muenke, K. W. Gripp, D. M. McDonald-McGinn, K. Gaudenz, L. A. Whitaker, S. P. Bartlett, R. I. Markowitz, N. H. Robin, N. Nwokoro, J. J. Mulvihill, H. W. Losken, J. B. Mulliken, A. E. Guttmacher, R. S. Wilroy, L. A. Clarke, G. Hollway, L. C. Adès, E. A. Haan, J. C. Mulley, M. M. Cohen, G. A. Bellus, C. A. Francomano, D. M. Moloney, S. A. Wall, A. O. M. Wilkie, E. H. Zackai

Am J Hum Genet. 1997 Mar; 60(3): 555–564.

PMCID:: PMC1712518

Summary Page Browse PDF–2.9M

Select item 283928510.

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

Sancy A Leachman, Robyn P Hickerson, Mary E Schwartz, Emily E Bullough, Stephen L Hutcherson, Kenneth M Boucher, C David Hansen, Mark J Eliason, G Susan Srivatsa, Douglas J Kornbrust, Frances JD Smith, WH Irwin McLean, Leonard M Milstone, Roger L Kaspar

Mol Ther. 2010 Feb; 18(2): 442–446. Published online 2009 Nov 24. doi: 10.1038/mt.2009.273

PMCID:: PMC2839285

Abstract Article PDF–264K

Select item 1030246111.

A De Novo 8q22.2q22.3 Interstitial Microdeletion in a Girl with Developmental Delay and Congenital Defects

Ruta Kalinauskiene, Deimante Brazdziunaite, Neringa Burokiene, Vaidas Dirsė, Ausra Morkuniene, Algirdas Utkus, Egle Preiksaitiene

Medicina (Kaunas) 2023 Jun; 59(6): 1156. Published online 2023 Jun 15. doi: 10.3390/medicina59061156

PMCID:: PMC10302461

Abstract Article PDF–1.2M

Select item 476904212.

Fibrodysplasia ossificans progressiva with minor unilateral hallux anomaly in a sporadic case from Northern Tanzania with the common ACVR1c.617G>A mutation

Mohammed Saleh, Joost Commandeur, Renata Bocciardi, Grace Kinabo, Ben Hamel

Pan Afr Med J. 2015; 22: 299. Published online 2015 Nov 24. doi: 10.11604/pamj.2015.22.299.8032

PMCID:: PMC4769042

Abstract Article PDF–412K

Select item 476949913.

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

BMC Med Genet. 2016; 17: 15. Published online 2016 Feb 27. doi: 10.1186/s12881-016-0276-4

PMCID:: PMC4769499

Abstract Article PDF–1.3M

Select item 549672114.

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Rafael Fabiano Machado Rosa, Samir Abou Ghaouche de Moraes, Leonardo Paludo Sulczinski, Filipe Augusto da Silva, Olga Gaio Milner, Silvana Rodrigues Streit Pires, Osvaldo Alfonso Pinto Artigalas, Rosana Cardoso Manique Rosa, Paulo Ricardo Gazzola Zen

Rev Paul Pediatr. 2017 Apr-Jun; 35(2): 234–238. Published online 2017 May 15. doi: 10.1590/1984-0462/;2017;35;2;00017

PMCID:: PMC5496721

Abstract Article PDF–681K

Select item 556784615.

Proteomic profiling of Pachyonychia congenita plantar callus

Robert H. Rice, Blythe P. Durbin-Johnson, Michelle Salemi, Mary E. Schwartz, David M. Rocke, Brett S. Phinney

J Proteomics. Author manuscript; available in PMC 2018 Aug 8.

Published in final edited form as: J Proteomics. 2017 Aug 8; 165: 132–137. Published online 2017 Jun 23. doi: 10.1016/j.jprot.2017.06.017

PMCID:: PMC5567846

Abstract Article PDF–862K

Select item 840422216.

Interstitial duplication of 20q11.22q13.11: A case report and review of literature

Logan Goetzinger, Rachel D. Starks, Kyle Dillahunt, Heather Major, Jaime M. Nagy, Alpa Sidhu

Mol Genet Genomic Med. 2021 Aug; 9(8): e1755. Published online 2021 Jul 16. doi: 10.1002/mgg3.1755

PMCID:: PMC8404222

Abstract Article PDF–632K

Select item 874748217.

Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

Ashley Quiggle, Wu-Lin Charng, Lilian Antunes, Momchil Nikolov, Xavier Bledsoe, Jacqueline T. Hecht, Matthew B. Dobbs, Christina A. Gurnett

Clin Orthop Relat Res. 2022 Feb; 480(2): 421–430. Published online 2021 Sep 6. doi: 10.1097/CORR.0000000000001957

PMCID:: PMC8747482

Abstract Article PDF–498K

Select item 903892618.

Weight-bearing activity impairs nuclear membrane and genome integrity via YAP activation in plantar melanoma

Jimyung Seo, HyunSeok Kim, Kyoung Il Min, Changgon Kim, Yongsoo Kwon, Zhenlong Zheng, Yusung Kim, Hyung-Soon Park, Young Seok Ju, Mi Ryung Roh, Kee Yang Chung, Joon Kim

Nat Commun. 2022; 13: 2214. Published online 2022 Apr 25. doi: 10.1038/s41467-022-29925-x

Correction in:: Nat Commun. 2022; 13: 2696.

PMCID:: PMC9038926

Abstract Article PDF–15M

Select item 918646119.

Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report

Wei-Kai Hung, Meng-Han Shen, Kuan-Yu Chen, Wen-Hung Chung, I-Hsin Shih, Chia-Hsieh Chang, Chin-Yi Yang

J Musculoskelet Neuronal Interact. 2022; 22(2): 292–295.

PMCID:: PMC9186461

Abstract Article PDF–1023K

Select item 1006035620.

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmüller, Peter Nürnberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Gökhan Yigit

Hum Genet. 2023; 142(4): 543–552. Published online 2023 Mar 21. doi: 10.1007/s00439-023-02528-2