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Literature DB >> 12452182

Detecting polymorphisms and mutations in candidate genes.

Julianne S Collins, Charles E Schwartz.

Abstract

Mesh：

Year: 2002 PMID： 12452182 PMCID： PMC385117 DOI： 10.1086/344344

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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4 in total

1. PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism?

Authors: E Nelis; B Holmberg; R Adolfsson; G Holmgren; C van Broeckhoven
Journal: Nat Genet Date: 1997-01 Impact factor: 38.330

2. P1148A in fibrillin-1 is not a mutation anymore.

Authors: M Wang; K R Mathews; K Imaizumi; S Beiraghi; B Blumberg; M Scheuner; J M Graham; M Godfrey
Journal: Nat Genet Date: 1997-01 Impact factor: 38.330

Review 3. Monogenic causes of X-linked mental retardation.

Authors: J Chelly; J L Mandel
Journal: Nat Rev Genet Date: 2001-09 Impact factor: 53.242

4. The HOXA1 A218G polymorphism and autism: lack of association in white and black patients from the South Carolina Autism Project.

Authors: Julianne S Collins; Richard J Schroer; Jeffrey Bird; Ron C Michaelis
Journal: J Autism Dev Disord Date: 2003-06

4 in total

55 in total

1. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Authors: Stefanie Weber; Holger Thiele; Sevgi Mir; Mohammad Reza Toliat; Betül Sozeri; Heiko Reutter; Markus Draaken; Michael Ludwig; Janine Altmüller; Peter Frommolt; Helen M Stuart; Parisa Ranjzad; Neil A Hanley; Rachel Jennings; William G Newman; Duncan T Wilcox; Uwe Thiel; Karl Peter Schlingmann; Rolf Beetz; Peter F Hoyer; Martin Konrad; Franz Schaefer; Peter Nürnberg; Adrian S Woolf
Journal: Am J Hum Genet Date: 2011-11-11 Impact factor: 11.025

Review 2. Muscle channelopathies and critical points in functional and genetic studies.

Authors: Karin Jurkat-Rott; Frank Lehmann-Horn
Journal: J Clin Invest Date: 2005-08 Impact factor: 14.808

3. Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome.

Authors: Amy E Merrill; Barry Merriman; Claire Farrington-Rock; Natalia Camacho; Eiman T Sebald; Vincent A Funari; Matthew J Schibler; Marc H Firestein; Zachary A Cohn; Mary Ann Priore; Alicia K Thompson; David L Rimoin; Stanley F Nelson; Daniel H Cohn; Deborah Krakow
Journal: Am J Hum Genet Date: 2009-04 Impact factor: 11.025

4. C9ORF72 repeat expansions not detected in a group of patients with schizophrenia.

Authors: Edward D Huey; Peter L Nagy; Laura Rodriguez-Murillo; Masood Manoochehri; Jill Goldman; Jeffrey Lieberman; Maria Karayiorgou; Richard Mayeux
Journal: Neurobiol Aging Date: 2012-10-01 Impact factor: 4.673

5. Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.

Authors: Tertia van Zyl; Johann C Jerling; Karin R Conradie; Edith J M Feskens
Journal: J Hum Genet Date: 2013-11-28 Impact factor: 3.172

6. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors: Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal: Am J Hum Genet Date: 2009-02-19 Impact factor: 11.025