J. Ming

发表

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

M. Tekin, H. Brunner, S. Bale, 2002, Human Genetics.

Dupilumab treatment in adults with moderate-to-severe atopic dermatitis.

T. Bieber, G. Yancopoulos, N. Stahl, 2014, The New England journal of medicine.

Dupilumab improves the molecular signature in skin of patients with moderate-to-severe atopic dermatitis.

G. Yancopoulos, M. Suárez-Fariñas, N. Graham, 2014, The Journal of allergy and clinical immunology.

Atopic dermatitis and skin disease Dupilumab improves the molecular signature in skin of patients with moderate-to-severe atopic dermatitis

G. Yancopoulos, N. Graham, G. Pirozzi, 2022 .

SYNDROMIC IMMUNODEFICIENCES WITH HUMORAL DEFECTS

E. R. Stiehm, J. Ming, E. Stiehm, 2001 .

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

M. Tekin, H. Brunner, S. Bale, 2002, Human Genetics.

Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome

E. Zackai, B. Weber, J. Greshock, 2005, Journal of Medical Genetics.

A Quantitative Systems Pharmacology Platform to Investigate the Impact of Alirocumab and Cholesterol-Lowering Therapies on Lipid Profiles and Plaque Characteristics

Christina M. Friedrich, W. Sasiela, J. Barrett, 2017, Gene regulation and systems biology.

Implementation of a Reference-Scaled Average Bioequivalence Approach for Highly Variable Acetylsalicylic Acid in Fixed-Dose Combination with Clopidogrel Versus Enteric Aspirin in Chinese Subjects Under Fasting Conditions: A Phase 1, Open-Label, Randomized, Crossover Study

J. Ming, Huiqiu Yin, Fangyuan Kong, 2020, Advances in Therapy.

Pharmacokinetics, Pharmacodynamics, Safety, and Tolerability of Dupilumab in Healthy Adult Subjects

John D. Davis, Meng Li, M. Ardeleanu, 2020, Clinical pharmacology in drug development.

Dupilumab Suppresses Fractional Exhaled Nitric Oxide (FeNO) and Biomarkers of Type 2 Inflammation in Adult Patients with Persistent Uncontrolled Asthma Despite Use of Medium-to-High Dose Inhaled Corticosteroids Plus Long-Acting Beta-Agonists (ICS/LABAs)

N. Graham, G. Pirozzi, Bingzhi Zhang, 2016 .

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.

C. Stanley, B. Glaser, B. Y. Hsu, 2000, Diabetes.

Molecular Basis and Characterization of the Hyperinsulinism/Hyperammonemia Syndrome Predominance of Mutations in Exons 11 and 12 of the Glutamate Dehydrogenase Gene

C. Stanley, B. Glaser, Jie Fang, 2000 .

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients.

E. Zackai, R. Markowitz, B. Clark, 1997, Genetic testing.

Immune abnormalities are a frequent manifestation of Kabuki syndrome

E. Zackai, P. Kaplan, K. Sullivan, 2005, American journal of medical genetics. Part A.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

E. Zackai, M. Patton, A. Shaw, 2002, Human Genetics.

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

S. Scherer, B. Fernandez, R. Weksberg, 2002, Genomics.

Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population.

M. Muenke, E. Castilla, I. Orioli, 2002, American journal of medical genetics.

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

M. Muenke, A. Bankier, R. Hall, 2001, American journal of medical genetics.

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

M. Muenke, E. Castilla, I. Orioli, 2001, Human Genetics.

Identification of novel mutations in SHH and ZIC2

M. Muenke, E. Castilla, I. Orioli, 2001 .

Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

E. Zackai, T. Shaikh, K. Artinger, 2015, Human molecular genetics.

Symptomatic Chiari I malformation in Kabuki syndrome

E. Zackai, J. Clayton-Smith, R. Zimmerman, 2005, American journal of medical genetics. Part A.

Molecular analysis of the Noggin (NOG) gene in holoprosencephaly patients.

M. Muenke, B. Solomon, E. Roessler, 2012, Molecular genetics and metabolism.

Skeletal anomalies and deformities in patients with deletions of 22q11.

E. Zackai, R. Markowitz, B. Emanuel, 1997, American journal of medical genetics.

AN IN VIVO POSITRON EMISSION TOMOGRAPHY STUDY OF THE CB1 OCCUPANCY BY AVE1625 USING [C-11]-JHU75528 IN HEALTHY SUBJECTS AND IN PATIENTS WITH SCHIZOPHRENIA.

James Robert Brašić, D. Wong, P. Deutsch, 2010 .

Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences.

I. Krantz, L. Jukofsky, J. Ming, 2001, American journal of medical genetics.

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly

T. Shaikh, D. Pineda-Alvarez, P. Kruszka, 2018, American journal of medical genetics. Part C, Seminars in medical genetics.

TGIF, a gene associated with human brain defects, regulates neuronal development

J. Ming, J. L. Knepper, A. James, 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

E. Roeder, M. Muenke, J. Mullor, 2003, Proceedings of the National Academy of Sciences of the United States of America.

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

Maximilian Muenke, M. Muenke, J. Ming, 2002, American journal of human genetics.

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

K. Jones, A. Giannotti, M. Campo, 1999, Human molecular genetics.

Genetic syndromes with evidence of immune deficiency

J. Graham, J. Ming, 2020, Stiehm's Immune Deficiencies.

Syndromic Immunodeficiencies: Genetic Syndromes Associated with Immune Abnormalities

E. Stiehm, J. Ming, John M. Graham Jr., 2003, Critical reviews in clinical laboratory sciences.

Immunodeficiency as a component of recognizable syndromes.

J. Graham, E. Stiehm, J. Ming, 1996, American journal of medical genetics.

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)

J. Rosenfeld, E. Zackai, R. Desnick, 2015, American journal of medical genetics. Part A.

Genetic syndromic immunodeficiencies with antibody defects.

E. Stiehm, J. Ming, 2008, Immunology and allergy clinics of North America.

Human developmental disorders and the Sonic hedgehog pathway.

M. Muenke, E. Roessler, J. Ming, 1998, Molecular medicine today.

Revision of “A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia”

E. Zackai, C. Haldeman-Englert, J. Ming, 2012, The Journal of craniofacial surgery.

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity

M. Muenke, M. Rivero, E. Roessler, 2003, Human Genetics.

Holoprosencephaly: from Homer to Hedgehog

M. Muenke, J. Ming, 1998, Clinical genetics.

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

E. Zackai, T. Shaikh, E. Rappaport, 2006, Human mutation.

A 223-kb De Novo Deletion of PAX9 in a Patient With Oligodontia

E. Zackai, C. Haldeman-Englert, J. Ming, 2010, The Journal of craniofacial surgery.

Further delineation of Kabuki syndrome in 48 well‐defined new individuals

Marc S. Williams, E. Zackai, R. Hennekam, 2005, American journal of medical genetics. Part A.

Genetic syndromes associated with immunodeficiency

J. Graham, E. Stiehm, J. Ming, 2002 .

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

R. Tervo, L. Shaffer, E. Zackai, 2008, Molecular Cytogenetics.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

E. Zackai, K. Sullivan, B. Emanuel, 1999, Genetic counseling.

Identification of a submicroscopic deletion of SHH associated with the holoprosencephaly spectrum by array‐based CGH

E. Zackai, B. Weber, J. Hoffman, 2006, Clinical Genetics.

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

E. Zackai, N. Spinner, P. Fortina, 2000, American journal of medical genetics.

Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia, and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome.

E. Zackai, R. Markowitz, D. McDonald-McGinn, 1997, American journal of medical genetics.

Dupilumab in persistent asthma with elevated eosinophil levels.

S. Wenzel, G. Yancopoulos, N. Stahl, 2013, The New England journal of medicine.

Autoimmune disorders in Kabuki syndrome

E. Zackai, D. McDonald-McGinn, J. Ming, 2005, American journal of medical genetics. Part A.

Coloboma and other ophthalmologic anomalies in Kabuki syndrome: Distinction from charge association

E. Zackai, D. McDonald-McGinn, J. Ming, 2003, American journal of medical genetics. Part A.

Quantification of cerebral cannabinoid receptors subtype 1 (CB1) in healthy subjects and schizophrenia by the novel PET radioligand [11C]OMAR

Dean F. Wong, Arman Rahmim, Hiroto Kuwabara, 2010, NeuroImage.

What Syndrome Is This?

A. Yan, S. Mallory, J. Seykora, 2007, Pediatric dermatology.

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gécz, E. Zackai, N. Spinner, 1999, Human Genetics.

Syndromes associated with immunodeficiency.

J. Graham, E. Stiehm, J. Ming, 1999, Advances in pediatrics.

Type I bone morphogenetic protein receptors are expressed on cerebellar granular neurons and a constitutively active form of the type IA receptor induces cerebellar abnormalities

J. Golden, K. Tang, J. Ming, 2002, Neuroscience.

Syndromic Immunodeficiencies: Genetic Syndromes Associated with Immune Abnormalities

E. Stiehm, J. Ming, John M. Graham Jr., 2003, Critical reviews in clinical laboratory sciences.