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Items: 1 to 20 of 80

1.
Cone-rod dystrophy can be a manifestation of Danon disease
Alberta A. H. J. Thiadens, Niki W. R. Slingerland, Ralph J. Florijn, Gerhard H. Visser, Frans C. Riemslag, Caroline C. W. Klaver
Graefes Arch Clin Exp Ophthalmol. 2012; 250(5): 769–774. Published online 2012 Jan 31. doi: 10.1007/s00417-011-1857-8
PMCID:
PMC3332371
AbstractArticlePDF–404K
2.
Minor Xp21 chromosome deletion in a male associated with expression of duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
Uta Francke, Hans D. Ochs, Bérengère de Martinville, Joseph Giacalone, Valerie Lindgren, Christine Distèche, Roberta A. Pagon, Marten H. Hofker, Gert-Jan B. van Ommen, Peter L. Pearson, Ralph J. Wedgwood
Am J Hum Genet. 1985 Mar; 37(2): 250–267.
PMCID:
PMC1684578
SummaryPage BrowsePDF–3.1M
3.
Bardet-Biedl and Cohen syndromes: differential diagnostic criteria
M. WARBURG, R. RIISE, P. BEALES, F. FLINTER
J Med Genet. 2000 Dec; 37(12): e46. doi: 10.1136/jmg.37.12.e46
PMCID:
PMC1734488
SummaryPDF–51K
4.
The hereditary tapetoretinal degenerations.
K. Wybar
Proc R Soc Med. 1967 Feb; 60(2): 158–163.
PMCID:
PMC1901607
SummaryPage BrowsePDF–1.1M
5.
Genetic Analysis of a Kindred With X-linked Mental Handicap and Retinitis Pigmentosa
M. A. Aldred, K. L. Dry, E. B. Knight-Jones, L. J. Hardwick, P. W. Teague, D. H. Lester, J. Brown, G. Spowart, A. D. Carothers, J. A. Raeburn, A. C. Bird, A. R. Fielder, A. F. Wright
Am J Hum Genet. 1994 Nov; 55(5): 916–922.
PMCID:
PMC1918325
SummaryPage BrowsePDF–1.0M
6.
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Zahid Kamal Siddiqui, Farooq Naeem, Andrew D. Paterson, Muhammad Lutfullah, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Apr 11; 82(4): 1011–1018. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.01.021
PMCID:
PMC2427291
AbstractArticlePDF–1.2M
7.
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
W Seifert, M Holder‐Espinasse, S Spranger, M Hoeltzenbein, E Rossier, H Dollfus, D Lacombe, A Verloes, K H Chrzanowska, G H B Maegawa, D Chitayat, D Kotzot, D Huhle, P Meinecke, B Albrecht, I Mathijssen, B Leheup, K Raile, H C Hennies, D Horn
J Med Genet. 2006 May; 43(5): e22. doi: 10.1136/jmg.2005.039867
PMCID:
PMC2564527
AbstractArticlePDF–1.0M
8.
CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis Pigmentosa
Abdul Noor, Christian Windpassinger, Megha Patel, Beata Stachowiak, Anna Mikhailov, Matloob Azam, Muhammad Irfan, Andrew D. Paterson, Muhammad Lutufullah, Dan Doherty, John B. Vincent, Muhammad Ayub
Am J Hum Genet. 2008 Nov 17; 83(5): 656. doi: 10.1016/j.ajhg.2008.10.005
PMCID:
PMC2674770
ArticlePDF–32K
9.
Childhood obesity: are genetic differences involved?
Claude Bouchard
Am J Clin Nutr. 2009 May; 89(5): 1494S–1501S. Published online 2009 Mar 4. doi: 10.3945/ajcn.2009.27113C
PMCID:
PMC2677002
AbstractArticlePDF–267K
10.
Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases
Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss
PLoS One. 2012; 7(1): e28936. Published online 2012 Jan 17. doi: 10.1371/journal.pone.0028936
PMCID:
PMC3260153
AbstractArticlePDF–6.2M
11.
Prenatal diagnosis of mitochondrial DNA8993 T----G disease.
A E Harding, I J Holt, M G Sweeney, M Brockington, M B Davis
Am J Hum Genet. 1992 Mar; 50(3): 629–633.
PMCID:
PMC1684296
SummaryPage BrowsePDF–767K
12.
Children with Usher syndrome: mental and behavioral disorders
Jesper Dammeyer
Behav Brain Funct. 2012; 8: 16. Published online 2012 Mar 27. doi: 10.1186/1744-9081-8-16
PMCID:
PMC3337277
AbstractArticlePDF–209K
13.
Co-occurrence of Distinct Ciliopathy Diseases in Single Families Suggests Genetic Modifiers
Maha S Zaki, Shifteh Sattar, Rustin A Massoudi, Joseph G Gleeson
Am J Med Genet A. 2011 Dec; 155(12): 3042–3049. Published online 2011 Oct 14. doi: 10.1002/ajmg.a.34173
PMCID:
PMC3415794
AbstractArticlePDF–1.6M
14.
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
Marie-Lorraine Monin, Cyril Mignot, Pascale De Lonlay, Bénédicte Héron, Alice Masurel, Michèle Mathieu-Dramard, Catherine Lenaerts, Christel Thauvin, Marion Gérard, Emmanuel Roze, Aurélia Jacquette, Perrine Charles, Claire de Baracé, Valérie Drouin-Garraud, Philippe Khau Van Kien, Valérie Cormier-Daire, Michèle Mayer, Hélène Ogier, Alexis Brice, Nathalie Seta, Delphine Héron
Orphanet J Rare Dis. 2014; 9: 207. Published online 2014 Dec 11. doi: 10.1186/s13023-014-0207-4
PMCID:
PMC4266234
AbstractArticlePDF–1.4M
15.
Screening for Hormonal, Monogenic, and Syndromic Disorders in Obese Infants and Children
Kelly Mason, Laura Page, Pinar Gumus Balikcioglu
Pediatr Ann. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Pediatr Ann. 2014 Sep; 43(9): e218–e224. doi: 10.3928/00904481-20140825-08
PMCID:
PMC4369917
AbstractArticlePDF–1.8M
16.
Genetic predictors of cardiovascular morbidity in Bardet–Biedl syndrome
E Forsythe, K Sparks, BE Hoskins, E Bagkeris, BM McGowan, PV Carroll, MSB Huda, S Mujahid, C Peters, T Barrett, S Mohammed, PL Beales
Clin Genet. 2015 Apr; 87(4): 343–349. Published online 2014 Apr 8. doi: 10.1111/cge.12373
Correction in:
Clin Genet. 2016 May; 89(5): 636.
PMCID:
PMC4402025
AbstractArticlePDF–756K
17.
Cognitive, Sensory, and Psychosocial Characteristics in Patients with Bardet-Biedl Syndrome
Danielle D. Brinckman, Kim M. Keppler-Noreuil, Catherine Blumhorst, Leslie G. Biesecker, Julie C. Sapp, Jennifer J. Johnston, Edythe A. Wiggs
Am J Med Genet A. Author manuscript; available in PMC 2015 May 5.
Published in final edited form as: Am J Med Genet A. 2013 Dec; 0(12): 2964–2971. Published online 2013 Nov 5. doi: 10.1002/ajmg.a.36245
PMCID:
PMC4419571
AbstractArticlePDF–668K
18.
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair, Christian Windpassinger
BMC Med Genet. 2016; 17: 10. Published online 2016 Feb 4. doi: 10.1186/s12881-016-0271-9
PMCID:
PMC4743198
AbstractArticlePDF–623K
19.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani V. Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart P. Leroy, Elfride De Baere
Am J Hum Genet. 2016 Aug 4; 99(2): 470–480. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.06.017
PMCID:
PMC4974088
AbstractArticlePDF–1.6M
20.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
Tamara Paff, Niki T. Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G. Haarman, Johannes M.A. Daniels, Erik A. Sistermans, Natalija Bogunovic, Gerard W. Dougherty, Inga M. Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Micha
Am J Hum Genet. 2017 Jan 5; 100(1): 160–168. Published online 2016 Dec 29. doi: 10.1016/j.ajhg.2016.11.019
PMCID:
PMC5223094
AbstractArticlePDF–1.9M

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