Literature DB >> 10521316

Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15.

C R Jamieson, C Govaerts, M J Abramowicz.   

Abstract

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Year:  1999        PMID： 10521316      PMCID： PMC1288302          DOI： 10.1086/302640

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


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  11 in total

Review 1.  Genetic malformations of the human cerebral cortex.

Authors:  C A Walsh
Journal:  Neuron       Date:  1999-05       Impact factor: 17.173

2.  The genetics and sub-classification of microcephaly.

Authors:  V COWIE
Journal:  J Ment Defic Res       Date:  1960-06

3.  Microcephaly in the Netherlands: a clinical and genetical study.

Authors:  J VAN DEN BOSCH
Journal:  Ann Hum Genet       Date:  1959-04       Impact factor: 1.670

4.  Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE.

Authors:  B Budowle; R Chakraborty; A M Giusti; A J Eisenberg; R C Allen
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

5.  Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Authors:  A P Jackson; D P McHale; D A Campbell; H Jafri; Y Rashid; J Mannan; G Karbani; P Corry; M I Levene; R F Mueller; A F Markham; N J Lench; C G Woods
Journal:  Am J Hum Genet       Date:  1998-08       Impact factor: 11.025

6.  True and false positive peaks in genomewide scans: applications of length-biased sampling to linkage mapping.

Authors:  J D Terwilliger; W D Shannon; G M Lathrop; J P Nolan; L R Goldin; G A Chase; D E Weeks
Journal:  Am J Hum Genet       Date:  1997-08       Impact factor: 11.025

7.  Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.

Authors:  L Kruglyak; M J Daly; E S Lander
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

8.  Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child.

Authors:  J L Tolmie; M McNay; J B Stephenson; D Doyle; J M Connor
Journal:  Am J Med Genet       Date:  1987-07

9.  Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

Authors:  E S Lander; D Botstein
Journal:  Science       Date:  1987-06-19       Impact factor: 47.728

10.  Defective growth hormone secretion in primary microcephaly.

Authors:  C Dacou-Voutetakis; T Karpathios; N Logothetis; M Constantinidis; N Matsaniotis; E Michalopoulou
Journal:  J Pediatr       Date:  1974-10       Impact factor: 4.406
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  40 in total

1.  Primary microcephaly: microcephalin and ASPM determine the size of the human brain.

Authors:  Arun Kumar; M Markandaya; S C Girimaji
Journal:  J Biosci       Date:  2002-12       Impact factor: 1.826

2.  Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.

Authors:  Duane L Guernsey; Haiyan Jiang; Julie Hussin; Marc Arnold; Khalil Bouyakdan; Scott Perry; Tina Babineau-Sturk; Jill Beis; Nadine Dumas; Susan C Evans; Meghan Ferguson; Makoto Matsuoka; Christine Macgillivray; Mathew Nightingale; Lysanne Patry; Andrea L Rideout; Aidan Thomas; Andrew Orr; Ingrid Hoffmann; Jacques L Michaud; Philip Awadalla; David C Meek; Mark Ludman; Mark E Samuels
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

3.  Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations.

Authors:  Ming Li; Liang Huang; Kaiqin Li; Yongxia Huo; Chunhui Chen; Jinkai Wang; Jiewei Liu; Zhenwu Luo; Chuansheng Chen; Qi Dong; Yong-Gang Yao; Bing Su; Xiong-Jian Luo
Journal:  Hum Genet       Date:  2016-02-13       Impact factor: 4.132

Review 4.  Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

Authors:  C Geoffrey Woods; Jacquelyn Bond; Wolfgang Enard
Journal:  Am J Hum Genet       Date:  2005-03-31       Impact factor: 11.025

5.  A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.

Authors:  Sandra Szczepanski; Muhammad Sajid Hussain; Ilknur Sur; Janine Altmüller; Holger Thiele; Uzma Abdullah; Syeda Seema Waseem; Abubakar Moawia; Gudrun Nürnberg; Angelika Anna Noegel; Shahid Mahmood Baig; Peter Nürnberg
Journal:  Hum Genet       Date:  2015-11-30       Impact factor: 4.132

6.  A minimalist approach to gene mapping: locating the gene for acheiropodia, by homozygosity analysis.

Authors:  M A Escamilla; M C DeMille; E Benavides; E Roche; L Almasy; S Pittman; J Hauser; D F Lew; N B Freimer; M R Whittle
Journal:  Am J Hum Genet       Date:  2000-04-25       Impact factor: 11.025

7.  Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly.

Authors:  Arun Kumar; Satish C Girimaji; Mahesh R Duvvari; Susan H Blanton
Journal:  Am J Hum Genet       Date:  2009-02       Impact factor: 11.025

8.  Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Authors:  Marc Trimborn; Sandra M Bell; Clive Felix; Yasmin Rashid; Hussain Jafri; Paul D Griffiths; Luitgard M Neumann; Alice Krebs; André Reis; Karl Sperling; Heidemarie Neitzel; Andrew P Jackson
Journal:  Am J Hum Genet       Date:  2004-06-15       Impact factor: 11.025

9.  Protein-truncating mutations in ASPM cause variable reduction in brain size.

Authors:  Jacquelyn Bond; Sheila Scott; Daniel J Hampshire; Kelly Springell; Peter Corry; Marc J Abramowicz; Ganesh H Mochida; Raoul C M Hennekam; Eamonn R Maher; Jean-Pierre Fryns; Abdulrahman Alswaid; Hussain Jafri; Yasmin Rashid; Ammar Mubaidin; Christopher A Walsh; Emma Roberts; C Geoffrey Woods
Journal:  Am J Hum Genet       Date:  2003-10-21       Impact factor: 11.025

10.  Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Authors:  Ghayda M Mirzaa; Benjamin Vitre; Gillian Carpenter; Iga Abramowicz; Joseph G Gleeson; Alex R Paciorkowski; Don W Cleveland; William B Dobyns; Mark O'Driscoll
Journal:  Hum Genet       Date:  2014-04-20       Impact factor: 4.132
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