PMC Articles for MedGen (Select 859582) - PMC

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr, Reinhard Ullmann, Stefan Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth Birk Møller, Stephen G. Kaler, Jutta Gärtner

Am J Hum Genet. 2012 Jan 13; 90(1): 61–68. doi: 10.1016/j.ajhg.2011.11.030

Correction in:: Am J Hum Genet. 2012 Feb 10; 90(2): 378.

PMCID:: PMC3257879

Article PDF–544K

Select item 22539724.

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

Hannah Mandel, Revital Shemer, Zvi U. Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni-Baruch, Mordechai Choder, Eli Sprecher

Am J Hum Genet. 2008 Jan 10; 82(1): 39–47. Published online 2008 Jan 4. doi: 10.1016/j.ajhg.2007.08.005

PMCID:: PMC2253972

Article PDF–1.5M

Select item 17359645.

Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

E Kinning, C Tufarelli, W Winship, M Aldred, R Trembath

J Med Genet. 2005 Dec; 42(12): e70. doi: 10.1136/jmg.2005.033829

PMCID:: PMC1735964

Summary PDF–317K

Select item 16853676.

Two clonal cell populations (mosaicism) in a 46,XY male with mucolipidosis II (I-cell disease)--an autosomal recessive disorder.

G H Thomas, C S Miller, K E Toomey, L W Reynolds, M L Reitman, A Varki, A Vannier, K N Rosebaum, W B Bias, B H Schofield

Am J Hum Genet. 1982 Jul; 34(4): 611–622.

PMCID:: PMC1685367

Summary Page Browse PDF–1.5M

Select item 16833987.

Strategies and sample-size considerations for mapping a two-locus autosomal recessive disorder.

P P Majumder

Am J Hum Genet. 1989 Sep; 45(3): 412–423.

PMCID:: PMC1683398

Summary Page Browse PDF–2.0M

Select item 12880898.

Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene

MiiaÂ Melkoniemi, HanÂ G.Â Brunner, SylvieÂ Manouvrier, RaoulÂ Hennekam, AndreaÂ Superti-Furga, HelenaÂ Kääriäinen, RichardÂ M.Â Pauli, TonÂ vanÂ Essen, MatthewÂ L.Â Warman, JackyÂ Bonaventure, PeterÂ Miny, LeenaÂ Ala-Kokko

Am J Hum Genet. 2000 Feb; 66(2): 368–377. doi: 10.1086/302750

PMCID:: PMC1288089

Article PDF–844K

Select item 12260559.

Mutations in the 3β-Hydroxysterol Δ²⁴-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Hans R. Waterham, Janet Koster, Gerrit Jan Romeijn, Raoul C.M. Hennekam, Peter Vreken, Hans C. Andersson, David R. FitzPatrick, Richard. I. Kelley, Ronald J. A. Wanders

Am J Hum Genet. 2001 Oct; 69(4): 685–694. Published online 2001 Aug 22. doi: 10.1086/323473

PMCID:: PMC1226055

Article PDF–257K

Select item 118033510.

Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

Jan Hellemans, Paul J. Coucke, Andres Giedion, Anne De Paepe, Peter Kramer, Frits Beemer, Geert R. Mortier

Am J Hum Genet. 2003 Apr; 72(4): 1040–1046. Published online 2003 Mar 11. doi: 10.1086/374318

PMCID:: PMC1180335

Article PDF–466K

Select item 105174511.

Absence/hypoplasia of tibia, polydactyly, retrocerebellar arachnoid cyst, and other anomalies: an autosomal recessive disorder.

L B Holmes, R W Redline, D L Brown, A J Williams, T Collins

J Med Genet. 1995 Nov; 32(11): 896–900. doi: 10.1136/jmg.32.11.896

PMCID:: PMC1051745

Summary Page Browse PDF–1.7M

Select item 105115712.

Dentato-olivary dysplasia in sibs: an autosomal recessive disorder?

T Martland, B N Harding, R E Morton, I Young

J Med Genet. 1997 Dec; 34(12): 1021–1023. doi: 10.1136/jmg.34.12.1021

PMCID:: PMC1051157

Summary Page Browse PDF–622K

Select item 103961113.

Primary vitreoretinal dysplasia transmitted as an autosomal recessive disorder.

N Ohba, S Watanabe, S Fujita

Br J Ophthalmol. 1981 Sep; 65(9): 631–635. doi: 10.1136/bjo.65.9.631

PMCID:: PMC1039611

Summary Page Browse PDF–1.0M

Select item 1103258714.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo

BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x

PMCID:: PMC11032587

Article PDF–990K

Select item 1102735815.

The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiency

Rani H. Singh, Marie-Hélène Bourdages, Angela Kurtz, Erin MacLoed, Chelsea Norman, Suzanne Ratko, Sandra C. van Calcar, Aileen Kenneson

Orphanet J Rare Dis. 2024; 19: 168. Published online 2024 Apr 18. doi: 10.1186/s13023-024-03167-0

PMCID:: PMC11027358

Article PDF–895K

Select item 1102165816.

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

Marianna Nicoletta Rossi, Valentina Matteo, Francesca Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, Ivan Caiello, Elena Loricchio, Francesco Bellomo, Anna Taranta, Francesco Emma, Fabrizio De Benedetti, Giusi Prencipe

Front Immunol. 2024; 15: 1373224. Published online 2024 Apr 3. doi: 10.3389/fimmu.2024.1373224