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Felicitas Lacbawan

Research Profile

Disorders

Physiology

Genes & Molecular Sequences

Amino Acid Sequences

Concepts & Ideas

Procedures

Chemicals & Drugs

Anatomy

Inclusion Bodies

Living Beings

Newborn Infant

Co-author Network

Publications

TOP 3
Nilrat Wannasilp; Benjamin D Solomon; Nicole Warren-Mora; Nancy J Clegg; Mauricio R Delgado; Felicitas Lacbawan; Ping Hu; Thomas L Winder; Erich Roessler; Maximilian Muenke
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
Shobhit Jain; Hyung-Goo Kim; Ingo Kurth; Felicitas Lacbawan; Lawrence C Layman; Irene Meliciani; Morris Schoeneman; Josefina Sharma; Svetlana Ten; Wolfgang Wenzel; Elka Jacobson-Dickman
Unique phenotype in a patient with CHARGE syndrome.
Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia V Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
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.

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All Publications

2011: Nilrat Wannasilp; Benjamin D Solomon; Nicole Warren-Mora; Nancy J Clegg; Mauricio R Delgado; Felicitas Lacbawan; Ping Hu; Thomas L Winder; Erich Roessler; Maximilian Muenke
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
American journal of medical genetics. Part A 2011;155A(4):860-4.
2011: Shobhit Jain; Hyung-Goo Kim; Ingo Kurth; Felicitas Lacbawan; Lawrence C Layman; Irene Meliciani; Morris Schoeneman; Josefina Sharma; Svetlana Ten; Wolfgang Wenzel; Elka Jacobson-Dickman
Unique phenotype in a patient with CHARGE syndrome.
International journal of pediatric endocrinology 2011;2011():11.
2009: Erich Roessler; Kenia B El-Jaick; Christèle Dubourg; Jorge I Vélez; Benjamin D Solomon; Daniel E Pineda-Alvarez; Felicitas Lacbawan; Nan Zhou; Maia V Ouspenskaia; Aimée Paulussen; Hubert J Smeets; Ute Hehr; Claude Bendavid; Sherri Bale; Sylvie Odent; Véronique David; Maximilian Muenke
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.
Human mutation 2009;30(10):E921-35.
2009: Benjamin D Solomon; Felicitas Lacbawan; Mahim Jain; Sabina Domené; Erich Roessler; Cynthia Moore; William B Dobyns; Maximilian Muenke
A novel SIX3 mutation segregates with holoprosencephaly in a large family.
American journal of medical genetics. Part A 2009;149A(5):919-25.
2009: Erich Roessler; Yong Ma; Maia V Ouspenskaia; Felicitas Lacbawan; Claude Bendavid; Christèle Dubourg; Philip A Beachy; Maximilian Muenke
Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans.
Human genetics 2009;125(4):393-400.
2009: Erich Roessler; Felicitas Lacbawan; Christèle Dubourg; Aimee Paulussen; Jos Herbergs; Ute Hehr; Claude Bendavid; Nan Zhou; Maia V Ouspenskaia; Sherri Bale; Sylvie Odent; Vèronique David; Maximilian Muenke
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Human mutation 2009;30(4):E541-54.
2008: Sabina Domené; Erich Roessler; Kenia B El-Jaick; Mirit Snir; Jamie L Brown; Jorge I Vélez; Sherri Bale; Felicitas Lacbawan; Maximilian Muenke; Benjamin Feldman
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Human molecular genetics 2008;17(24):3919-28.
2008: Deeann Wallis; Felicitas Lacbawan; Mahim Jain; Vazken M Der Kaloustian; Carlos E Steiner; John B Moeschler; Wolfgang Losken; Ilkka I Kaitila; Stephen Cantrell; Virginia K Proud; John C Carey; Donald W Day; Dorit Lev; Ahmad S Teebi; Luther Knox Robinson; H Eugene Hoyme; Nadia Al-Torki; Jacqueline Siegel-Bartelt; John B Mulliken; Nathaniel H Robin; Dolores Saavedra; Elaine H Zackai; Maximilian Muenke
Additional EFNB1 mutations in craniofrontonasal syndrome.
American journal of medical genetics. Part A 2008;146A(15):2008-12.
2008: Erich Roessler; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge I Vélez; Amy Kantipong; Felicitas Lacbawan; P Bowers; John W Belmont; Jeffrey A Towbin; Elizabeth Goldmuntz; Benjamin Feldman; Maximilian Muenke
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
American journal of human genetics 2008;83(1):18-29.
2007: Emily S Doherty; Felicitas Lacbawan; Donald W Hadley; Carmen Brewer; Christopher K Zalewski; H Jeff Kim; Beth Solomon; Kenneth Rosenbaum; Demetrio L Domingo; Thomas Hart; Brian P Brooks; Ladonna Immken; R Brian Lowry; Virginia E Kimonis; Alan L Shanske; Fernanda Sarquis Jehee; Maria Rita Passos Bueno; Carol Knightly; Donna McDonald-McGinn; Elaine H Zackai; Maximilian Muenke
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
American journal of medical genetics. Part A 2007;143A(24):3204-15.
2007: D Haas; J Morgenthaler; Felicitas Lacbawan; B Long; H Runz; Sven F Garbade; Johannes Zschocke; Richard I Kelley; Jürgen G Okun; Georg F Hoffmann; Maximilian Muenke
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
Journal of medical genetics 2007;44(5):298-305.
2007: Kenia B El-Jaick; Shannon E Powers; Laurent Bartholin; Kenneth R Myers; Jin Hahn; Iêda M Orioli; Maia V Ouspenskaia; Felicitas Lacbawan; Erich Roessler; David Wotton; Maximilian Muenke
Functional analysis of mutations in TGIF associated with holoprosencephaly.
Molecular genetics and metabolism 2007;90(1):97-111.
2006: Claude Bendavid; Bassem R Haddad; A Griffin; Marjan Huizing; Christèle Dubourg; Isabelle Gicquel; Luciane Cavalli; Laurent Pasquier; Alan L Shanske; R Long; Maia V Ouspenskaia; Sylvie Odent; Felicitas Lacbawan; Véronique David; Maximilian Muenke
Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype.
Journal of medical genetics 2006;43(6):496-500.
2003: Anne M Slavotinek; Debra Boles; Felicitas Lacbawan
A female infant with duplication of chromosome 2q33 to 2q37.3.
Clinical dysmorphology 2003;12(4):251-6.
2003: Anne M Slavotinek; Felicitas Lacbawan
Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature.
Clinical dysmorphology 2003;12(3):195-6.
2002: Felicitas Lacbawan; Maximilian Muenke
Central nervous system embryogenesis and its failures.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2002;5(5):425-47.
2002: Anne M Slavotinek; Elizabeth Dubovsky; Harry C Dietz; Felicitas Lacbawan
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome.
American journal of medical genetics 2002;110(3):283-8.
2002: Richard L Davis; Antony E Shrimpton; Robin W Carrell; David A Lomas; Lieselotte Gerhard; Bruno Baumann; Daniel Lawrence; Manuel Yepes; Tai Seung Kim; Bernardino Ghetti; Pedro Piccardo; Masaki Takao; Felicitas Lacbawan; Maximilian Muenke; Richard N Sifers; Charles B Bradshaw; Paul F Kent; George H Collins; Daria Larocca; Peter D Holohan
Association between conformational mutations in neuroserpin and onset and severity of dementia.
Lancet 2002;359(9325):2242-7.
1999: Richard L Davis; Peter D Holohan; Antony E Shrimpton; Arthur H Tatum; JW Daucher; George H Collins; R Todd; C Bradshaw; Paul F Kent; D Feiglin; A Rosenbaum; M S Yerby; C M Shaw; Felicitas Lacbawan; Daniel Lawrence
Familial encephalopathy with neuroserpin inclusion bodies.
The American journal of pathology 1999;155(6):1901-13.
1999: Richard L Davis; Antony E Shrimpton; Peter D Holohan; C Bradshaw; D Feiglin; George H Collins; Peter Sonderegger; Jochen Kinter; L M Becker; Felicitas Lacbawan; D Krasnewich; Maximilian Muenke; Daniel Lawrence; M S Yerby; C M Shaw; Bibek Gooptu; PR Elliott; J T Finch; Robin W Carrell; David A Lomas
Familial dementia caused by polymerization of mutant neuroserpin.
Nature 1999;401(6751):376-9.
1995: J Woo; Felicitas Lacbawan; R Sunheimer; D LeFever; J B McCabe
Is myoglobin useful in the diagnosis of acute myocardial infarction in the emergency department setting?
American journal of clinical pathology 1995;103(6):725-9.