Literature DB >> 12395298

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Jeffrey E Ming1, Maximilian Muenke.   

Abstract

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Year:  2002        PMID： 12395298      PMCID： PMC385082          DOI： 10.1086/344412

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


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  118 in total

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Authors:  B W Bisgrove; H J Yost
Journal:  Am J Med Genet       Date:  2001-07-15

Review 2.  Axis formation and patterning in zebrafish.

Authors:  A F Schier
Journal:  Curr Opin Genet Dev       Date:  2001-08       Impact factor: 5.578

Review 3.  Consequences of complexity within biological networks: robustness and health, or vulnerability and disease.

Authors:  K M Dipple; J K Phelan; E R McCabe
Journal:  Mol Genet Metab       Date:  2001 Sep-Oct       Impact factor: 4.797

4.  A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews.

Authors:  I Lerer; M Sagi; Z Ben-Neriah; T Wang; H Levi; D Abeliovich
Journal:  Hum Mutat       Date:  2001-11       Impact factor: 4.878

Review 5.  SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

Authors:  L Nanni; J E Ming; Y Du; R K Hall; M Aldred; A Bankier; M Muenke
Journal:  Am J Med Genet       Date:  2001-07-22

Review 6.  Update on the molecular genetics of retinitis pigmentosa.

Authors:  Q Wang; Q Chen; K Zhao; L Wang; L Wang; E I Traboulsi
Journal:  Ophthalmic Genet       Date:  2001-09       Impact factor: 1.803

7.  Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Authors:  N Katsanis; S J Ansley; J L Badano; E R Eichers; R A Lewis; B E Hoskins; P J Scambler; W S Davidson; P L Beales; J R Lupski
Journal:  Science       Date:  2001-09-21       Impact factor: 47.728

8.  Early subdivisions in the neural plate define distinct competence for inductive signals.

Authors:  Daisuke Kobayashi; Makoto Kobayashi; Ken Matsumoto; Toshihiko Ogura; Masato Nakafuku; Kenji Shimamura
Journal:  Development       Date:  2002-01       Impact factor: 6.868

9.  Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3.

Authors:  T Joensuu; R Hämäläinen; B Yuan; C Johnson; S Tegelberg; P Gasparini; L Zelante; U Pirvola; L Pakarinen; A E Lehesjoki; A de la Chapelle; E M Sankila
Journal:  Am J Hum Genet       Date:  2001-08-27       Impact factor: 11.025

10.  Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH.

Authors:  R A Schneider; D Hu; J L Rubenstein; M Maden; J A Helms
Journal:  Development       Date:  2001-07       Impact factor: 6.868
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  92 in total

1.  High intrafamilial variability in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a case study.

Authors:  D Capalbo; A Fusco; G Aloj; N Improda; L Vitiello; U Dianzani; C Betterle; M Salerno; C Pignata
Journal:  J Endocrinol Invest       Date:  2011-11-07       Impact factor: 4.256

2.  Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.

Authors:  C L Relton; C S Wilding; M S Pearce; A J Laffling; P A Jonas; S A Lynch; E J Tawn; J Burn
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

3.  BMP antagonism protects Nodal signaling in the gastrula to promote the tissue interactions underlying mammalian forebrain and craniofacial patterning.

Authors:  Yu-Ping Yang; Ryan M Anderson; John Klingensmith
Journal:  Hum Mol Genet       Date:  2010-05-27       Impact factor: 6.150

Review 4.  It's all in your head: new insights into craniofacial development and deformation.

Authors:  Minal D Tapadia; Dwight R Cordero; Jill A Helms
Journal:  J Anat       Date:  2005-11       Impact factor: 2.610

5.  Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.

Authors:  Erich Roessler; Jorge I Vélez; Nan Zhou; Maximilian Muenke
Journal:  Mol Genet Metab       Date:  2012-01-12       Impact factor: 4.797

6.  A Hypomorphic Allele in the FGF8 Gene Contributes to Holoprosencephaly and Is Allelic to Gonadotropin-Releasing Hormone Deficiency in Humans.

Authors:  R F Arauz; B D Solomon; D E Pineda-Alvarez; A L Gropman; J A Parsons; E Roessler; M Muenke
Journal:  Mol Syndromol       Date:  2010-04-22

Review 7.  From human genetics and genomics to pharmacogenetics and pharmacogenomics: past lessons, future directions.

Authors:  Daniel W Nebert; Ge Zhang; Elliot S Vesell
Journal:  Drug Metab Rev       Date:  2008       Impact factor: 4.518

8.  The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.

Authors:  Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herbergs; Ute Hehr; Claude Bendavid; Nan Zhou; Maia Ouspenskaia; Sherri Bale; Sylvie Odent; Vèronique David; Maximilian Muenke
Journal:  Hum Mutat       Date:  2009-04       Impact factor: 4.878

9.  The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.

Authors:  Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
Journal:  Hum Mutat       Date:  2009-10       Impact factor: 4.878

10.  Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.

Authors:  Erich Roessler; Yong Ma; Maia V Ouspenskaia; Felicitas Lacbawan; Claude Bendavid; Christèle Dubourg; Philip A Beachy; Maximilian Muenke
Journal:  Hum Genet       Date:  2009-01-31       Impact factor: 4.132
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