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Maximilian Muenke

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Nneamaka B Agochukwu; Laurel J Benson; Benjamin D Solomon; Maximilian Muenke
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
Karin S Walsh; Francisco X Castellanos; Daniel M Imas; Peter G Kardel; Maximilian Muenke; Roger J Packer; Jorge I Vélez; Maria T Acosta
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
Mauricio Arcos-Burgos; Francisco Xavier Castellanos; Ana C Londoño; Francisco Lopera; Maria T Acosta; Andres Arbelaez; Juan David Palacio; David A Pineda; Jorge I Vélez; Maximilian Muenke
Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls.

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2013: Nneamaka B Agochukwu; Laurel J Benson; Benjamin D Solomon; Maximilian Muenke
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism.
American journal of medical genetics. Part A 2013;161(3):453-60.
2013: Karin S Walsh; Francisco X Castellanos; Daniel M Imas; Peter G Kardel; Maximilian Muenke; Roger J Packer; Jorge I Vélez; Maria T Acosta
Symptomatology of autism spectrum disorder in a population with neurofibromatosis type 1.
Developmental medicine and child neurology 2013;55(2):131-8.
2012: Mauricio Arcos-Burgos; Francisco Xavier Castellanos; Ana C Londoño; Francisco Lopera; Maria T Acosta; Andres Arbelaez; Juan David Palacio; David A Pineda; Jorge I Vélez; Maximilian Muenke
Analysis of brain metabolism by proton magnetic resonance spectroscopy (1H-MRS) in attention-deficit/hyperactivity disorder suggests a generalized differential ontogenic pattern from controls.
Attention deficit and hyperactivity disorders 2012;4(4):205-12.
2012: Benjamin D Solomon; Maximilian Muenke
When to suspect a genetic syndrome.
American family physician 2012;86(9):826-33.
2012: Nneamaka B Agochukwu; Andrea Gropman; Benjamin D Solomon; Maximilian Muenke
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis.
Pediatric neurology 2012;47(5):355-61.
2012: Lucilene A Ribeiro; Antonio Richieri-Costa; Erich Roessler; Nan Zhou; Settara Chandrasekharappa; Ping Hu; Marypat Jones; Daniel E Pineda-Alvarez; Maximilian Muenke
Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.
Birth defects research. Part A, Clinical and molecular teratology 2012;94(11):912-7.
2012: Sophia M Bous; Luitgard Graul-Neumann; Emily E Hardisty; Heidemarie Neitzel; Benjamin D Solomon; Maximilian Muenke
Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.
Clinical dysmorphology 2012;21(4):183-90.
2012: Hyun-Duck Nah; Nneamaka B Agochukwu; Scott P Bartlett; Eiki Koyama; Maximilian Muenke
Phenotype profile of a genetic mouse model for Muenke syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012;28(9):1483-93.
2012: Nneamaka B Agochukwu; Benjamin D Solomon; Maximilian Muenke
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012;28(9):1447-63.
2012: Kelly A Bear; Shobana Kubendran; Margaret O'Hara; Erich Roessler; Benjamin D Solomon; Daniel E Pineda Alvarez; Maximilian Muenke
Evidence for SHH as a candidate gene for encephalocele.
Clinical dysmorphology 2012;21(3):148-51.
2012: M Jain; K-P Lesch; Ana C Londoño; Francisco Lopera; J Meyer; Maria T Acosta; A Arbelaez; Mauricio Arcos-Burgos; J E Bailey-Wilson; Joan Z Balog; F Xavier Castellanos; J Elia; Christine M Freitag; H Hakonarson; U Hemminger; C Jacob; Juan David Palacio; Luis Palacio; H Palmason; David A Pineda; Tobias Renner; E Roessler; J Romanos; Marcel Romanos; C Seitz; J Swanson; J I Vélez; Susanne Walitza; Andreas Warnke; Maximilian Muenke
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHD.
Molecular psychiatry 2012;17(7):741-7.
2012: Nora D Volkow; Maximilian Muenke
The genetics of addiction.
Human genetics 2012;131(6):773-7.
2012: Kshitij Srivastava; Ping Hu; Jeffrey E Ming; Erich Roessler; Benjamin D Solomon; Maximilian Muenke
Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.
Molecular genetics and metabolism 2012;106(2):241-3.
2012: Mauricio Arcos-Burgos; Benjamin D Solomon; Jorge I Vélez; Maximilian Muenke
A common genetic network underlies substance use disorders and disruptive or externalizing disorders.
Human genetics 2012;131(6):917-29.
2012: Nneamaka Barbara Agochukwu; Emily S Doherty; Benjamin D Solomon; Maximilian Muenke
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
The Journal of craniofacial surgery 2012;23(3):664-8.
2012: Erich Roessler; Jorge I Vélez; Nan Zhou; Maximilian Muenke
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.
Molecular genetics and metabolism 2012;105(4):658-64.
2012: Maximilian Muenke
2011 William Allan Award introduction: John M. Opitz.
American journal of human genetics 2012;90(3):390-1.
2012: Erich Roessler; Raman Sood; Kshitij Srivastava; Blake Carrington; Laura Elnitski; Benjamin Feldman; Sung-Kook Hong; Ping Hu; Ward F Odenwald; Hanna Petrykowska; Lucilene A Ribeiro; Antonio Richieri-Costa; Maximilian Muenke
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
PloS one 2012;7(7):e39026.
2012: Lina Basel-Vanagaite; Andrea Gat; Karl-H Grzeschik; Osnat Konen; Paul Merlob; Maximilian Muenke; Benjamin D Solomon; Eli Sprecher; Adi Albin-Kaplanski; Lea Sirota
New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.
Pediatric dermatology 2012;29(1):89-95.
2011: Nneamaka B Agochukwu; Christopher J Lyons; Travis Pollock; Ash Singhal; Benjamin D Solomon; Margot I Van Allen; Anna Zajaczkowska-Kielska; Maximilian Muenke
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2011;27(12):2183-6.
2011: Daniel E Pineda-Alvarez; Erich Roessler; Benjamin D Solomon; Wadih M Zein; Joan Z Balog; Brian P Brooks; Donald W Hadley; Casey K Hadsall; Maximilian Muenke
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
American journal of medical genetics. Part A 2011;155A(11):2713-20.
2011: David A Pineda; Daniel E Pineda-Alvarez; Isabel Puerta; Natalia Trujillo-Orrego; Jorge I Velez; Maria T Acosta; DC Aguirre-Acevedo; Clara P Arango; Liliana Hincapié-Henao; Sandra I Holzinger; John Lewis; Francisco Lopera; Ariel F Martinez; Maximilian Muenke; Juan David Palacio; Mauricio Arcos-Burgos
Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolate.
Attention deficit and hyperactivity disorders 2011;3(3):291-9.
2011: Gyu-Un Bae; Sabina Domené; Jong-Sun Kang; Maximilian Muenke; Erich Roessler; Karen Schachter; Robert S Krauss
Mutations in CDON, encoding a hedgehog receptor, result in holoprosencephaly and defective interactions with other hedgehog receptors.
American journal of human genetics 2011;89(2):231-40.
2011: Manu S Raam; Benjamin D Solomon; Maximilian Muenke
Holoprosencephaly: a guide to diagnosis and clinical management.
Indian pediatrics 2011;48(6):457-66.
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: Emily F Kauvar; Ping Hu; Daniel E Pineda-Alvarez; Benjamin D Solomon; Amalia Dutra; Evgenia Pak; Brooke Blessing; Virginia Proud; Alan L Shanske; Cathy A Stevens; Jill A Rosenfeld; Lisa G Shaffer; Erich Roessler; Maximilian Muenke
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Molecular genetics and metabolism 2011;102(4):470-80.
2011: Eva Klopocki; Silke Lohan; Francesco Brancati; Randi Koll; Anja Brehm; Petra Seemann; Katarina Dathe; Sigmar Stricker; Jochen Hecht; Kristin Bosse; Regina C Betz; Francesco Giuseppe Garaci; Bruno Dallapiccola; Mahim Jain; Maximilian Muenke; Vivian C W Ng; Wilson Chan; Danny Chan; Stefan Mundlos
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
American journal of human genetics 2011;88(1):70-5.
2011: Maria T Acosta; Mauricio Arcos-Burgos; Joan Z Balog; M L Bustamante; J I Vélez; Maximilian Muenke
A two-locus genetic interaction between LPHN3 and 11q predicts ADHD severity and long-term outcome.
Translational psychiatry 2011;1():e17.
2011: Sabina Domené; Horia Stanescu; Deeann Wallis; Bradford Tinloy; Daniel E Pineda; Robert Kleta; Mauricio Arcos-Burgos; Erich Roessler; Maximilian Muenke
Screening of human LPHN3 for variants with a potential impact on ADHD susceptibility.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(1):11-8.
2011: Ariel F Martinez; Maximilian Muenke; Mauricio Arcos-Burgos
From the black widow spider to human behavior: Latrophilins, a relatively unknown class of G protein-coupled receptors, are implicated in psychiatric disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(1):1-10.
2011: Christèle Dubourg; Véronique David; Andrea Gropman; Sandra Mercier; Maximilian Muenke; Sylvie Odent; Daniel E Pineda-Alvarez; Erich Roessler
Clinical utility gene card for: Holoprosencephaly.
European journal of human genetics : EJHG 2011;19(1):preceeding 118-20.
2010: Emily F Kauvar; Maximilian Muenke
Holoprosencephaly: recommendations for diagnosis and management.
Current opinion in pediatrics 2010;22(6):687-95.
2010: Mauricio Arcos-Burgos; Maximilian Muenke
Toward a better understanding of ADHD: LPHN3 gene variants and the susceptibility to develop ADHD.
Attention deficit and hyperactivity disorders 2010;2(3):139-47.
2010: K Izumi; D Culler; Bd Solomon; Maximilian Muenke; As Parikh
Submicroscopic familial chromosomal translocation between 7q and 12p mimicking an autosomal dominant holoprosencephaly syndrome.
Clinical genetics 2010;78(4):402-4.
2010: Benjamin D Solomon; Eileen Lange; Jay Shubrook; F John Service; Gail Herman; Rajaram J Karne; Phillip Gorden; Maximilian Muenke; Constantine A Stratakis
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
American journal of medical genetics. Part A 2010;152A(6):1545-9.
2010: Ute Hehr; Daniel E Pineda-Alvarez; Goekhan Uyanik; Ping Hu; Nan Zhou; Andreas Hehr; Chayim Schell-Apacik; Carola Altus; Cornelia Daumer-Haas; Annechristin Meiner; Peter Steuernagel; Erich Roessler; Juergen Winkler; Maximilian Muenke
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Human genetics 2010;127(5):555-61.
2010: David A Pineda; Natalia Trujillo-Orrego; DC Aguirre-Acevedo; Clara P Arango; Liliana Hincapié-Henao; David A Montoya-Arenas; Francisco Lopera; Daniel E Pineda-Alvarez; Mauricio Arcos-Burgos; Maximilian Muenke
[Utility of the Wender-Utah rating scale and the checklists for the diagnosis of familial attention deficit hyperactivity disorder in adults. Convergent and concurrent validities].
Revista de neurologia 2010;50(4):207-16.
2010: Manu S Raam; Benjamin D Solomon; Stavit A Shalev; Maximilian Muenke
Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):176-82.
2010: Emily F Kauvar; Benjamin D Solomon; Cynthia J R Curry; Anthonie J van Essen; Nicole Janssen; Amalia Dutra; Erich Roessler; Maximilian Muenke
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):158-69.
2010: David D Weaver; Benjamin D Solomon; Kelly Akin-Samson; Richard I Kelley; Maximilian Muenke
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):142-5.
2010: Benjamin D Solomon; Kenneth N Rosenbaum; Jeanne M Meck; Maximilian Muenke
Holoprosencephaly due to numeric chromosome abnormalities.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):146-8.
2010: Amelia A Keaton; Benjamin D Solomon; Anthonie J van Essen; Kathleen M Pfleghaar; Michael A Slama; Judith A Martin; Maximilian Muenke
Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):170-5.
2010: Benjamin D Solomon; Sandra Mercier; Jorge I Vélez; Daniel E Pineda-Alvarez; Adrian Wyllie; Nan Zhou; Christèle Dubourg; Veronique David; Sylvie Odent; Erich Roessler; Maximilian Muenke
Analysis of genotype-phenotype correlations in human holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):133-41.
2010: Dorothea Haas; Maximilian Muenke
Abnormal sterol metabolism in holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):102-8.
2010: Daniel E Pineda-Alvarez; Christèle Dubourg; Véronique David; Erich Roessler; Maximilian Muenke
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):93-101.
2010: Erich Roessler; Maximilian Muenke
The molecular genetics of holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):52-61.
2010: Benjamin D Solomon; Daniel E Pineda-Alvarez; Sandra Mercier; Manu S Raam; Sylvie Odent; Maximilian Muenke
Holoprosencephaly flashcards: A summary for the clinician.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):3-7.
2010: Maximilian Muenke; Benjamin D Solomon; Sylvie Odent
Introduction to the American Journal of Medical Genetics Part C on holoprosencephaly.
American journal of medical genetics. Part C, Seminars in medical genetics 2010;154C(1):1-2.
2009: Josephine Elia; Mauricio Arcos-Burgos; Kelly L Bolton; Paul J Ambrosini; Wade Berrettini; Maximilian Muenke
ADHD latent class clusters: DSM-IV subtypes and comorbidity.
Psychiatry research 2009;170(2-3):192-8.
2009: Benjamin D Solomon; Daniel E Pineda-Alvarez; Joan Z Balog; Donald Hadley; Andrea Gropman; Radha Nandagopal; Joan C Han; Jin S Hahn; Delphine Blain; Brian Brooks; Maximilian Muenke
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia.
American journal of medical genetics. Part A 2009;149A(11):2543-6.
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: Erich Roessler; Wuhong Pei; Maia V Ouspenskaia; Jayaprakash D Karkera; Jorge Ivan Veléz; Sharmilla Banerjee-Basu; Gretchen Gibney; Philip J Lupo; Laura E Mitchell; Jeffrey A Towbin; P Bowers; John W Belmont; Elizabeth Goldmuntz; Andreas D Baxevanis; Benjamin Feldman; Maximilian Muenke
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Molecular genetics and metabolism 2009;98(1-2):225-34.
2009: Chayim Can Schell-Apacik; Birgit Ertl-Wagner; Axel Panzel; Kerstin Klausener; Gisbert Rausch; Maximilian Muenke; Hubertus von Voss; Ute Hehr
Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.
American journal of medical genetics. Part A 2009;149A(7):1592-4.
2009: Benjamin D Solomon; Lorraine Potocki; Calvin E Oyer; Maximilian Muenke
Holoprosencephaly in an 8.5-week triploidy gestation.
Clinical dysmorphology 2009;18(3):166-7.
2009: Deeann Wallis; Mauricio Arcos-Burgos; Mahim Jain; F Xavier Castellanos; Juan David Palacio; David A Pineda; Francisco Lopera; Horia Stanescu; Daniel Pineda; Kate Berg; Luis Palacio; Joan E Bailey-Wilson; Maximilian Muenke
Polymorphisms in the neural nicotinic acetylcholine receptor α4 subunit (CHRNA4) are associated with ADHD in a genetic isolate.
Attention deficit and hyperactivity disorders 2009;1(1):19-24.
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: N Trujillo-Orrego; David A Pineda; Clara P Arango; Isabel Puerta; Francisco Lopera; DC Aguirre-Acevedo; L Hincapie-Henao; D E Pineda-Alvarez; Mauricio Arcos-Burgos; Maximilian Muenke
[Attention deficit hyperactivity behavioral phenotype dimensions of adults from Antioquian families using the Wender-Utah Scale -Spanish version].
Revista de neurologia 2009;48(8):400-6.
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: Yongsu Jeong; Federico Coluccio Leskow; Kenia B El-Jaick; Erich Roessler; Maximilian Muenke; Anastasia Yocum; Christele Dubourg; Xue Li; Xin Geng; Guillermo Oliver; Douglas J Epstein
Regulation of a remote Shh forebrain enhancer by the Six3 homeoprotein.
Nature genetics 2008;40(11):1348-53.
2008: Deeann Wallis; Heather F Russell; Maximilian Muenke
Review: Genetics of attention deficit/hyperactivity disorder.
Journal of pediatric psychology 2008;33(10):1085-99.
2008: Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera Kalscheuer; Maximilian Muenke; Hubertus von Voss
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
American journal of medical genetics. Part A 2008;146A(19):2501-11.
2008: Mahim Jain; Deeann Wallis; Nathaniel H Robin; Fabienne Wavrant De Vrieze; John Hardy; Mohsen Ghadami; Kristin Bosse; Regina C Betz; Markus M Nöthen; Mauricio Arcos-Burgos; Maximilian Muenke
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type?
American journal of medical genetics. Part A 2008;146A(17):2308-11.
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.
2008: Maria T Acosta; F Xavier Castellanos; Kelly L Bolton; Joan Z Balog; Patricia Eagen; Linda Nee; Janet Jones; Luis Palacio; Christopher Sarampote; Heather F Russell; Kate Berg; Mauricio Arcos-Burgos; Maximilian Muenke
Latent class subtyping of attention-deficit/hyperactivity disorder and comorbid conditions.
Journal of the American Academy of Child and Adolescent Psychiatry 2008;47(7):797-807.
2008: Dwight R Cordero; Claude Bendavid; Alan L Shanske; Bassem R Haddad; Maximilian Muenke
Holoprosencephaly-Polydactyly syndrome: in search of an etiology.
European journal of medical genetics 2008;51(2):106-12.
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: Jayaprakash D Karkera; J S Lee; Erich Roessler; Sharmila Banerjee-Basu; Maia V Ouspenskaia; J Mez; Elizabeth Goldmuntz; P Bowers; Jeffrey A Towbin; J W Belmont; Andreas D Baxevanis; Alexander F Schier; Maximilian Muenke
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.
American journal of human genetics 2007;81(5):987-94.
2007: Robin J Edison; Kate Berg; Alan T Remaley; Richard I Kelley; Charles Rotimi; Roger E Stevenson; Maximilian Muenke
Adverse birth outcome among mothers with low serum cholesterol.
Pediatrics 2007;120(4):723-33.
2007: Mahim Jain; Luis Palacio; F Xavier Castellanos; Juan David Palacio; David A Pineda; Maria I Restrepo; Juan F Muñoz; Francisco Lopera; Deeann Wallis; Kate Berg; Joan E Bailey-Wilson; Mauricio Arcos-Burgos; Maximilian Muenke
Attention-deficit/hyperactivity disorder and comorbid disruptive behavior disorders: evidence of pleiotropy and new susceptibility loci.
Biological psychiatry 2007;61(12):1329-39.
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: Lucilene Arilho Ribeiro; Kenia B El-Jaick; Maximilian Muenke; Antonio Richieri-Costa
SIX3 mutations with holoprosencephaly.
American journal of medical genetics. Part A 2006;140(23):2577-83.
2006: Heather F Russell; Deeann Wallis; MICHELE MAZZOCCO; Thomas Moshang; Elaine Zackai; Andrew R Zinn; Judith L Ross; Maximilian Muenke
Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects.
Journal of pediatric psychology 2006;31(9):945-55.
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.
2006: Yongsu Jeong; Kenia B El-Jaick; Erich Roessler; Maximilian Muenke; Douglas J Epstein
A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.
Development (Cambridge, England) 2006;133(4):761-72.
2005: Daniel J Wattendorf; Maximilian Muenke
Klinefelter syndrome.
American family physician 2005;72(11):2259-62.
2005: Daniel J Wattendorf; Maximilian Muenke
Prader-Willi syndrome.
American family physician 2005;72(5):827-30.
2005: Erich Roessler; Alexandre N Ermilov; Dorothy Katherine Grange; Aiqin Wang; Marina Grachtchouk; Andrzej Dlugosz; Maximilian Muenke
A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Human molecular genetics 2005;14(15):2181-8.
2005: Daniel J Wattendorf; Maximilian Muenke
Fetal alcohol spectrum disorders.
American family physician 2005;72(2):279-82, 285.
2005: Daniel J Wattendorf; Maximilian Muenke
Diagnosis and management of fragile X syndrome.
American family physician 2005;72(1):111-3.
2005: Robin J Edison; Maximilian Muenke
Gestational exposure to lovastatin followed by cardiac malformation misclassified as holoprosencephaly.
The New England journal of medicine 2005;352(26):2759.
2004: Robin J Edison; Maximilian Muenke
Mechanistic and epidemiologic considerations in the evaluation of adverse birth outcomes following gestational exposure to statins.
American journal of medical genetics. Part A 2004;131(3):287-98.
2004: Juan David Palacio; F Xavier Castellanos; David A Pineda; Francisco Lopera; Mauricio Arcos-Burgos; Yakeel T Quiroz; Gloria C Henao; Isabel Puerta; Dora L Ramírez; Judy Rapoport; Joan E Bailey-Wilson; Kate Berg; Maximilian Muenke
Attention-deficit/hyperactivity disorder and comorbidities in 18 Paisa Colombian multigenerational families.
Journal of the American Academy of Child and Adolescent Psychiatry 2004;43(12):1506-15.
2004: Mauricio Arcos-Burgos; F Xavier Castellanos; David A Pineda; Francisco Lopera; Juan David Palacio; Luis Palacio; Judy Rapoport; Kate Berg; Joan E Bailey-Wilson; Maximilian Muenke
Attention-deficit/hyperactivity disorder in a population isolate: linkage to loci at 4q13.2, 5q33.3, 11q22, and 17p11.
American journal of human genetics 2004;75(6):998-1014.
2004: Claude Bendavid; Robert Kleta; Robert Long; Maia V Ouspenskaia; Maximilian Muenke; Bassem R Haddad; William A Gahl
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
Human genetics 2004;115(6):510-4.
2004: Elizabeth McPherson; Dale Huff; Jeanette Dunn; Maximilian Muenke
Anomalies of the forebrain with radial limb defects: Garcia-Lurie-Steinfeld syndrome?
Birth defects research. Part A, Clinical and molecular teratology 2004;70(8):537-44.
2004: Robin J Edison; Maximilian Muenke
Central nervous system and limb anomalies in case reports of first-trimester statin exposure.
The New England journal of medicine 2004;350(15):1579-82.
2004: Mauricio Arcos-Burgos; F Xavier Castellanos; D Konecki; Francisco Lopera; David A Pineda; Juan David Palacio; Judy Rapoport; Kate Berg; Joan E Bailey-Wilson; Maximilian Muenke
Pedigree disequilibrium test (PDT) replicates association and linkage between DRD4 and ADHD in multigenerational and extended pedigrees from a genetic isolate.
Molecular psychiatry 2004;9(3):252-9.
2004: Maria T Acosta; Mauricio Arcos-Burgos; Maximilian Muenke
Attention deficit/hyperactivity disorder (ADHD): complex phenotype, simple genotype?
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(1):1-15.
2003: Erich Roessler; Yang-Zhu Du; José L Mullor; Esther Casas; William P Allen; Gabriele Gillessen-Kaesbach; Elizabeth R Roeder; Jeffrey E Ming; Ariel Ruiz i Altaba; Maximilian Muenke
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Proceedings of the National Academy of Sciences of the United States of America 2003;100(23):13424-9.
2003: Anne M Slavotinek; Michael T Collins; Maximilian Muenke
Non-syndromic hemihyperplasia in a male and his mother.
American journal of medical genetics. Part A 2003;121A(1):47-51.
2003: Can Schell-Apacik; Mariel Rivero; Jessica L Knepper; Erich Roessler; Maximilian Muenke; Jeffrey E Ming
SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.
Human genetics 2003;113(2):170-7.
2003: Deepak Kamnasaran; Patricia C O'Brien; Elaine H Zackai; Maximilian Muenke; Malcolm A Ferguson-Smith; Diane W Cox
Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome.
European journal of human genetics : EJHG 2003;11(4):315-24.
2003: Erich Roessler; Maximilian Muenke
How a Hedgehog might see holoprosencephaly.
Human molecular genetics 2003;12 Spec No 1():R15-25.
2003: Robin J Edison; Maximilian Muenke
The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol.
Congenital anomalies 2003;43(1):1-21.
2003: Lisa A Schimmenti; June de la Cruz; Richard Alan Lewis; Jayaprakash D Karkera; Glenda S Manligas; Erich Roessler; Maximilian Muenke
Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.
American journal of medical genetics. Part A 2003;116A(3):215-21.
2002: Mondira Kundu; Amjad Javed; Jae-Pil Jeon; Alan Horner; Lillian Shum; Michael Eckhaus; Maximilian Muenke; Jane B Lian; Yingzi Yang; Glen H Nuckolls; Gary S Stein; P Paul Liu
Cbfbeta interacts with Runx2 and has a critical role in bone development.
Nature genetics 2002;32(4):639-44.
2002: Jeffrey E Ming; Maximilian Muenke
Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.
American journal of human genetics 2002;71(5):1017-32.
2002: Krista Redlinger-Grosse; Barbara A Bernhardt; Kate Berg; Maximilian Muenke; Barbara Bowles Biesecker
The decision to continue: the experiences and needs of parents who receive a prenatal diagnosis of holoprosencephaly.
American journal of medical genetics 2002;112(4):369-78.
2002: Maximilian Muenke
The pit, the cleft and the web.
Nature genetics 2002;32(2):219-20.
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: 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.
2002: Mauricio Arcos-Burgos; F Xavier Castellanos; Francisco Lopera; David A Pineda; Juan David Palacio; M Garcia; Gloria C Henao; Luis Palacio; Kate Berg; Joan E Bailey-Wilson; Maximilian Muenke
Attention-deficit/hyperactivity disorder (ADHD): feasibility of linkage analysis in a genetic isolate using extended and multigenerational pedigrees.
Clinical genetics 2002;61(5):335-43.
2002: June M de la Cruz; Richard N Bamford; Rebecca D Burdine; Erich Roessler; A James Barkovich; Dian Donnai; Alexander F Schier; Maximilian Muenke
A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects.
Human genetics 2002;110(5):422-8.
2002: Mauricio Arcos-Burgos; Maximilian Muenke
Genetics of population isolates.
Clinical genetics 2002;61(4):233-47.
2002: Jeffrey E Ming; Michelle E Kaupas; Erich Roessler; Han G Brunner; Mahin Golabi; Mustafa Tekin; Robert F Stratton; Eva Sujansky; Sherri J Bale; Maximilian Muenke
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
Human genetics 2002;110(4):297-301.
2002: Elizabeth Goldmuntz; Richard N Bamford; Jayaprakash D Karkera; June dela Cruz; Erich Roessler; Maximilian Muenke
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle.
American journal of human genetics 2002;70(3):776-80.
2002: Iêda M Orioli; Alexandre R Vieira; Eduardo E Castilla; Jeffrey E Ming; Maximilian Muenke
Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.
American journal of medical genetics 2002;108(1):12-5.
2002: Shih-hsin Kan; Navaratnam Elanko; David Johnson; Laura Cornejo-Roldan; Jackie Cook; Elsa W Reich; Susan Tomkins; Alain Verloes; Stephen R F Twigg; Sahan V Rannan-Eliya; Donna M McDonald-McGinn; Elaine H Zackai; Steven A Wall; Maximilian Muenke; Andrew O M Wilkie
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
American journal of human genetics 2002;70(2):472-86.
2002: Jayaprakash D Karkera; Shai Izraeli; Erich Roessler; Amalia Dutra; I Kirsch; Maximilian Muenke
The genomic structure, chromosomal localization, and analysis of SIL as a candidate gene for holoprosencephaly.
Cytogenetic and genome research 2002;97(1-2):62-7.
2001: R M Clark; PC Marker; Erich Roessler; Amalia Dutra; J C Schimenti; Maximilian Muenke; David M Kingsley
Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1.
Genetics 2001;159(2):715-26.
2001: Erich Roessler; Maximilian Muenke
Midline and laterality defects: left and right meet in the middle.
BioEssays : news and reviews in molecular, cellular and developmental biology 2001;23(10):888-900.
2001: L Nanni; Jeffrey E Ming; Y Du; Roger K Hall; Michael J Aldred; Agnes Bankier; Maximilian Muenke
SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.
American journal of medical genetics 2001;102(1):1-10.
2001: Iêda M Orioli; Eduardo E Castilla; Jeffrey E Ming; Julio Nazer; M J Burle de Aguiar; J C Llerena; Maximilian Muenke
Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly.
Human genetics 2001;109(1):1-6.
2001: Lúcia Y Brown; Sylvie Odent; Véronique David; Martine Blayau; Christèle Dubourg; C Apacik; M A Delgado; B D Hall; J F Reynolds; A Sommer; D Wieczorek; Stephen A Brown; Maximilian Muenke
Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.
Human molecular genetics 2001;10(8):791-6.
2000: Richard N Bamford; Erich Roessler; Rebecca D Burdine; U Saplakoğlu; J dela Cruz; M Splitt; Judith A Goodship; Jeffrey A Towbin; P Bowers; GB Ferrero; B Marino; Alexander F Schier; Michael M Shen; Maximilian Muenke; Brett Casey
Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects.
Nature genetics 2000;26(3):365-9.
2000: K W Gripp; David Wotton; M C Edwards; Erich Roessler; L Ades; P Meinecke; A Richieri-Costa; Elaine H Zackai; J Massagué; Maximilian Muenke; S J Elledge
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Nature genetics 2000;25(2):205-8.
2000: Maximilian Muenke; P A Beachy
Genetics of ventral forebrain development and holoprosencephaly.
Current opinion in genetics & development 2000;10(3):262-9.
2000: L Nanni; R L Schelper; Maximilian Muenke
Molecular genetics of holoprosencephaly.
Frontiers in bioscience : a journal and virtual library 2000;5():D334-42.
2000: L Nanni; Lisa A Croen; E J Lammer; Maximilian Muenke
Holoprosencephaly: molecular study of a California population.
American journal of medical genetics 2000;90(4):315-9.
2000: Erich Roessler; Y Du; Andrei Glinka; Amalia Dutra; Christof Niehrs; Maximilian Muenke
The genomic structure, chromosome location, and analysis of the human DKK1 head inducer gene as a candidate for holoprosencephaly.
Cytogenetics and cell genetics 2000;89(3-4):220-4.
2000: D Wallis; Maximilian Muenke
Mutations in holoprosencephaly.
Human mutation 2000;16(2):99-108.
2000: Maximilian Muenke; M M Cohen
Genetic approaches to understanding brain development: holoprosencephaly as a model.
Mental retardation and developmental disabilities research reviews 2000;6(1):15-21.
2000: George Feldman; Ming Li; S Martin; Margrit Urbanek; J Andoni Urtizberea; M Fardeau; Martine LeMerrer; J Michael Connor; James T Triffitt; Roger Smith; Maximilian Muenke; Frederick S Kaplan; Eileen M Shore
Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31.
American journal of human genetics 2000;66(1):128-35.
1999: L Nanni; Jeffrey E Ming; M Bocian; K Steinhaus; Diana Bianchi; C Die-Smulders; A Giannotti; K Imaizumi; K L Jones; M D Campo; R A Martin; P Meinecke; M E Pierpont; N H Robin; I D Young; Erich Roessler; Maximilian Muenke
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Human molecular genetics 1999;8(13):2479-88.
1999: Erich Roessler; Maximilian Muenke
The molecular genetics of holoprosencephaly: a model of brain development for the next century.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1999;15(11-12):646-51.
1999: Erich Roessler; L Mittaz; Y Du; Hamish Scott; J Chang; Colette Rossier; Michel Guipponi; S P Matsuda; Maximilian Muenke; Stylianos E Antonarakis
Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).
Human genetics 1999;105(5):489-95.
1999: Ute Hehr; Maximilian Muenke
Craniosynostosis syndromes: from genes to premature fusion of skull bones.
Molecular genetics and metabolism 1999;68(2):139-51.
1999: D E Wallis; Maximilian Muenke
Molecular mechanisms of holoprosencephaly.
Molecular genetics and metabolism 1999;68(2):126-38.
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.
1999: D E Wallis; Erich Roessler; Ute Hehr; L Nanni; T Wiltshire; A Richieri-Costa; Gabriele Gillessen-Kaesbach; Elaine H Zackai; J Rommens; Maximilian Muenke
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Nature genetics 1999;22(2):196-8.
1999: L R Cornejo-Roldan; Erich Roessler; Maximilian Muenke
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Human genetics 1999;104(5):425-31.
1998: Stephen A Brown; Dorothy Warburton; Lúcia Y Brown; C Y Yu; E R Roeder; S Stengel-Rutkowski; Raoul Hennekam; Maximilian Muenke
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
Nature genetics 1998;20(2):180-3.
1998: K Gaudenz; Erich Roessler; NA Quaderi; Brunella Franco; G Feldman; D L Gasser; B Wittwer; Jürgen Horst; Eugenio Montini; John M Opitz; Andrea Ballabio; Maximilian Muenke
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain.
American journal of human genetics 1998;63(3):703-10.
1998: Jeffrey E Ming; Erich Roessler; Maximilian Muenke
Human developmental disorders and the Sonic hedgehog pathway.
Molecular medicine today 1998;4(8):343-9.
1998: Erich Roessler; Maximilian Muenke
Holoprosencephaly: a paradigm for the complex genetics of brain development.
Journal of inherited metabolic disease 1998;21(5):481-97.
1998: Karen W Gripp; Catherine Stolle; Donna M McDonald-McGinn; Richard Markowitz; Scott P Bartlett; James A Katowitz; Maximilian Muenke; Elaine H Zackai
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.
American journal of medical genetics 1998;78(4):356-60.
1998: K Gaudenz; Erich Roessler; S Vainikka; K Alitalo; Maximilian Muenke
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4.
Molecular genetics and metabolism 1998;64(1):76-9.
1998: F R Vargas; Erich Roessler; K Gaudenz; E Belloni; A S Whitehead; P N Kirke; J L Mills; G Hooper; R E Stevenson; I Cordeiro; P Correia; T Felix; R Gereige; Michael L Cunningham; S Canún; Stylianos Antonarakis; Tom Strachan; LC Tsui; SW Scherer; Maximilian Muenke
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly.
Human genetics 1998;102(4):387-92.
1998: Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; P M Glat; L B Cassileth; R Mayro; E H Zackai; Maximilian Muenke
Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3.
The Journal of pediatrics 1998;132(4):714-6.
1998: J E Ming; Maximilian Muenke
Holoprosencephaly: from Homer to Hedgehog.
Clinical genetics 1998;53(3):155-63.
1997: NA Quaderi; Susann Schweiger; K Gaudenz; Brunella Franco; Elena I Rugarli; Wolfgang Berger; G J Feldman; M Volta; Gennaro Andolfi; S Gilgenkrantz; Robert W Marion; Raoul Hennekam; John M Opitz; Maximilian Muenke; Hans-Hilger Ropers; Andrea Ballabio
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.
Nature genetics 1997;17(3):285-91.
1997: JE Pellegrino; M W Lensch; Maximilian Muenke; Phillip F Chance
Clinical and molecular analysis in Joubert syndrome.
American journal of medical genetics 1997;72(1):59-62.
1997: G J Feldman; D E Ward; E Lajeunie-Renier; D Saavedra; N H Robin; V Proud; L J Robb; Vazken M Der Kaloustian; J C Carey; M M Cohen; V Cormier; A Munnich; E H Zackai; Andrew O M Wilkie; Arlen Price; Maximilian Muenke
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
Human molecular genetics 1997;6(11):1937-41.
1997: Erich Roessler; E Belloni; K Gaudenz; F Vargas; SW Scherer; LC Tsui; Maximilian Muenke
Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly.
Human molecular genetics 1997;6(11):1847-53.
1997: Erich Roessler; D E Ward; K Gaudenz; E Belloni; SW Scherer; Dian Donnai; J Siegel-Bartelt; LC Tsui; Maximilian Muenke
Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly.
Human genetics 1997;100(2):172-81.
1997: DM Moloney; Steven A Wall; G J Ashworth; Michael Oldridge; I A Glass; Clair A Francomano; Maximilian Muenke; Andrew O M Wilkie
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
Lancet 1997;349(9058):1059-62.
1997: Maximilian Muenke; Karen W Gripp; Donna M McDonald-McGinn; K Gaudenz; Linton A Whitaker; Scott P Bartlett; Richard Markowitz; N H Robin; NA Nwokoro; J J Mulvihill; H W Losken; J B Mulliken; A E Guttmacher; R S Wilroy; L A Clarke; Georgina Hollway; Lesley C Adès; Eric A Haan; John C Mulley; M M Cohen; GA Bellus; Clair A Francomano; DM Moloney; Steven A Wall; Andrew O M Wilkie
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
American journal of human genetics 1997;60(3):555-64.
1997: Michael Oldridge; P W Lunt; Elaine H Zackai; Donna M McDonald-McGinn; Maximilian Muenke; DM Moloney; Stephen R F Twigg; John Heath; Timothy Howard; George Hoganson; D M Gagnon; Ethylin Jabs; Andrew O M Wilkie
Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.
Human molecular genetics 1997;6(1):137-43.
1996: R L Kelley; Erich Roessler; Raoul Hennekam; Gerald L Feldman; Kenjiro Kosaki; M C Jones; J C Palumbos; Maximilian Muenke
Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?
American journal of medical genetics 1996;66(4):478-84.
1996: Erich Roessler; E Belloni; K Gaudenz; Philippe Jay; Philippe Berta; Stephen W Scherer; Lap-Chee Tsui; Maximilian Muenke
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nature genetics 1996;14(3):357-60.
1996: E Belloni; Maximilian Muenke; Erich Roessler; G Traverso; J Siegel-Bartelt; A Frumkin; H F Mitchell; H Donis-Keller; Cynthia Helms; A V Hing; Hong-Qiang Heng; BF Koop; D Martindale; Johanna M Rommens; Lap-Chee Tsui; Stephen W Scherer
Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.
Nature genetics 1996;14(3):353-6.
1996: Jeffrey R Sawyer; Janet L Lukacs; S J Hassed; G L Arnold; H F Mitchell; Maximilian Muenke
Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly.
American journal of medical genetics 1996;65(2):113-6.
1996: GA Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; Clair A Francomano; Maximilian Muenke
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Nature genetics 1996;14(2):174-6.
1996: A B Shafritz; Eileen M Shore; Francis H Gannon; Michael Zasloff; R Taub; Maximilian Muenke; Frederick S Kaplan
Overexpression of an osteogenic morphogen in fibrodysplasia ossificans progressiva.
The New England journal of medicine 1996;335(8):555-61.
1996: Nathaniel H Robin; J M Opitz; Maximilian Muenke
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.
American journal of medical genetics 1996;62(3):305-17.
1996: Nathaniel H Robin; B Segel; G Carpenter; Maximilian Muenke
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.
American journal of medical genetics 1996;62(2):184-91.
1996: H B Janoff; Maximilian Muenke; L O Johnson; Andrew E Rosenberg; Eileen M Shore; Enyi Okereke; M Zasloff; Frederick S Kaplan
Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.
American journal of medical genetics 1996;61(4):320-4.
1996: U Schell; J Wienberg; A Köhler; P Bray-Ward; D E Ward; W G Wilson; W P Allen; R R Lebel; Jeffrey R Sawyer; P L Campbell; D J Aughton; H H Punnett; E J Lammer; F T Kao; D C Ward; Maximilian Muenke
Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
Human molecular genetics 1996;5(2):223-9.
1996: F Gurrieri; Maximilian Muenke
The search for genes that cause holoprosencephaly: possible approaches.
Birth defects original article series 1996;30(1):247-50.
1996: Charles L Bevins; D E Jones; A Dutra; J Schaffzin; Maximilian Muenke
Human enteric defensin genes: chromosomal map position and a model for possible evolutionary relationships.
Genomics 1996;31(1):95-106.
1995: Nathaniel H Robin; G J Feldman; A L Aronson; H F Mitchell; R Weksberg; C O Leonard; B K Burton; K D Josephson; R Laxová; K A Aleck; J E Allanson; M L Guion-Almeida; R A Martin; L G Leichtman; Arlen Price; John M Opitz; Maximilian Muenke
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.
Nature genetics 1995;11(4):459-61.
1995: J Overhauser; H F Mitchell; E H Zackai; D B Tick; K Rojas; Maximilian Muenke
Physical mapping of the holoprosencephaly critical region in 18p11.3.
American journal of human genetics 1995;57(5):1080-5.
1995: Maximilian Muenke; L J Bone; H F Mitchell; I Hart; K Walton; K Hall-Johnson; E F Ippel; J Dietz-Band; K Kvaløy; C M Fan
Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome.
American journal of human genetics 1995;57(5):1074-9.
1995: Maximilian Muenke; U Schell
Fibroblast-growth-factor receptor mutations in human skeletal disorders.
Trends in genetics : TIG 1995;11(8):308-13.
1995: Maximilian Muenke
Finding genes involved in human developmental disorders.
Current opinion in genetics & development 1995;5(3):354-61.
1995: H B Janoff; J A Tabas; Eileen M Shore; Maximilian Muenke; Murray K Dalinka; S Schlesinger; Michael Zasloff; Frederick S Kaplan
Mild expression of fibrodysplasia ossificans progressiva: a report of 3 cases.
The Journal of rheumatology 1995;22(5):976-8.
1995: G J Feldman; Nathaniel H Robin; Louise A Brueton; E Robertson; E M Thompson; J Siegel-Bartelt; D L Gasser; L Charles Bailey; E H Zackai; Maximilian Muenke
A gene for cleidocranial dysplasia maps to the short arm of chromosome 6.
American journal of human genetics 1995;56(4):938-43.
1995: G T Berry; J J Mallee; H Moo Kwon; JS Rim; W R Mulla; Maximilian Muenke; Nancy B Spinner
The human osmoregulatory Na+/myo-inositol cotransporter gene (SLC5A3): molecular cloning and localization to chromosome 21.
Genomics 1995;25(2):507-13.
1994: Maximilian Muenke; U Schell; A Hehr; Nathaniel H Robin; H W Losken; A Schinzel; L J Pulleyn; P Rutland; William Reardon; Sue Malcolm
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Nature genetics 1994;8(3):269-74.
1994: Heidi Yeh; M Chow; William Abrams; J Fan; J Foster; H Mitchell; Maximilian Muenke; Joel Rosenbloom
Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.
Genomics 1994;23(2):443-9.
1994: Maximilian Muenke; F Gurrieri; C Bay; D H Yi; A L Collins; V P Johnson; Raoul Hennekam; G B Schaefer; L Weik; M S Lubinsky
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(17):8102-6.
1994: M J Pykett; M E Murphy; P R Harnish; Maximilian Muenke; J Marks; Donna L George
Loss of chromosome 8p sequences in human breast carcinoma cell lines.
Cancer genetics and cytogenetics 1994;76(1):23-8.
1993: Frederick S Kaplan; W McCluskey; G Hahn; J A Tabas; Maximilian Muenke; Michael Zasloff
Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family.
The Journal of bone and joint surgery. American volume 1993;75(8):1214-20.
1993: ANTONIE KLINE; M E White; Ronald J Wapner; K Rojas; L G Biesecker; John Kamholz; E H Zackai; Maximilian Muenke; C I Scott; J Overhauser
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
American journal of human genetics 1993;52(5):895-906.
1993: Frederick S Kaplan; J Murray; J E Sylvester; I L Gonzalez; J Patrick O'Connor; J L Doering; Maximilian Muenke; Beverly S Emanuel; Michael Zasloff
The topographic organization of repetitive DNA in the human nucleolus.
Genomics 1993;15(1):123-32.
1993: A Köhler; C Logan; Alexandra L Joyner; Maximilian Muenke
Regional assignment of the human homeobox-containing gene EN1 to chromosome 2q13-q21.
Genomics 1993;15(1):233-5.
1991: Maximilian Muenke; Eduardo Ruchelli; L B Rorke; D M McDonald-McGinn; M K Orlow; A Isaacs; F J Craparo; L K Dunn; E H Zackai
On lumping and splitting: a fetus with clinical findings of the oral-facial-digital syndrome type VI, the hydrolethalus syndrome, and the Pallister-Hall syndrome.
American journal of medical genetics 1991;41(4):548-56.
1991: Maximilian Muenke; F Levine
High prenatal lead levels and congenital anomalies.
American journal of medical genetics 1991;41(3):388.
1991: F Levine; Maximilian Muenke
VACTERL association with high prenatal lead exposure: similarities to animal models of lead teratogenicity.
Pediatrics 1991;87(3):390-2.
1990: Rhonda E Schnur; R G Knowlton; Maria A Musarella; Maximilian Muenke; Robert L Nussbaum
Partial deletions of a sequence family ("DXS278") and its physical linkage to steroid sulfatase as detected by pulsed-field gel electrophoresis.
Genomics 1990;8(2):255-62.