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Melissa Maisenbacher

Research Profile

Anatomy

Disorders

Chemicals & Drugs

Procedures

Fluorescence In Situ Hybridization

Physiology

Living Beings

Infants

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Publications

TOP 3
Antoinet C J Gijsbers; Barbara D'haene; Y Hilhorst-Hofstee; marcel mannens; Beate Albrecht; Joerg Seidel; David R Witt; Melissa K Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H Breuning; Elfride De Baere; Claudia Ruivenkamp
Identification of copy number variants associated with BPES-like phenotypes.
Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Jia Huang; Jodi D Hoffman; Yi Zhang; Melissa K Maisenbacher; Elaine H Zackai; Barbara L Weber; Jeffrey E Ming
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.

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All Publications

2008: Antoinet C J Gijsbers; Barbara D'haene; Y Hilhorst-Hofstee; marcel mannens; Beate Albrecht; Joerg Seidel; David R Witt; Melissa K Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H Breuning; Elfride De Baere; Claudia Ruivenkamp
Identification of copy number variants associated with BPES-like phenotypes.
Human genetics 2008;124(5):489-98.
2007: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen V Firth; Mohammad Hassan Karimi-Nejad; Chong A Kim; Kathryn Leask; Melissa K Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; T J L de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; Louise C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Journal of medical genetics 2007;44(2):89-98.
2006: Jia Huang; Jodi D Hoffman; Yi Zhang; Melissa K Maisenbacher; Elaine H Zackai; Barbara L Weber; Jeffrey E Ming
Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array-based CGH.
Clinical genetics 2006;69(4):367-9.
2005: Donna M McDonald-McGinn; Karen W Gripp; Richard E Kirschner; Melissa K Maisenbacher; Virginia Hustead; Galen M Schauer; Kim Keppler-Noreuil; Karen L Ciprero; Patrick S Pasquariello; Don LaRossa; Scott P Bartlett; Linton A Whitaker; Elaine H Zackai
Craniosynostosis: another feature of the 22q11.2 deletion syndrome.
American journal of medical genetics. Part A 2005;136A(4):358-62.
2005: Melissa K Maisenbacher; Ji-Soo Han; Megan L O'Brien; Michael R Tracy; Bülent Erol; Alyssa A Schaffer; John P Dormans; Elaine H Zackai; Kenro Kusumi
Molecular analysis of congenital scoliosis: a candidate gene approach.
Human genetics 2005;116(5):416-9.
2004: Bülent Erol; Michael R Tracy; John P Dormans; Elaine H Zackai; Melissa K Maisenbacher; Megan L O'Brien; Peter D Turnpenny; Kenro Kusumi
Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis.
Journal of pediatric orthopedics 2004;24(6):674-82.
2004: Matthew A Deardorff; Melissa K Maisenbacher; Elaine H Zackai
Ganglioglioma in a Sotos syndrome patient with an NSD1 deletion.
American journal of medical genetics. Part A 2004;130A(4):393-4.
2004: Amy Kao; Juliana Mariani; Donna M McDonald-McGinn; Melissa K Maisenbacher; Amy R Brooks-Kayal; Elaine H Zackai; David R Lynch
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion.
American journal of medical genetics. Part A 2004;129A(1):29-34.
2004: Eric T Ricchetti; Lisa States; Harish S Hosalkar; Junichi Tamai; Melissa K Maisenbacher; Donna M McDonald-McGinn; Elaine H Zackai; Denis S Drummond
Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome.
The Journal of bone and joint surgery. American volume 2004;86-A(8):1751-60.
2004: Sulagna C Saitta; Stacy E Harris; Ann P Gaeth; Deborah A Driscoll; Donna M McDonald-McGinn; Melissa K Maisenbacher; Jill M Yersak; Prabir K Chakraborty; April M Hacker; Elaine H Zackai; Terry Ashley; Beverly S Emanuel
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Human molecular genetics 2004;13(4):417-28.