Diffuse abnormal layering of small intestinal smooth
muscle is present in patients with FLNA mutations and x-linked
intestinal pseudo-obstruction.
The American journal of surgical
pathology
, 2010 Oct: 1528-43
Neuronal migration disorders in microcephalic
osteodysplastic primordial dwarfism type I/III.
Acta neuropathologica
, 2010 Sep 21
Counting myenteric ganglion cells in histologic sections:
an empirical approach.
Human pathology
, 2010 Aug: 1097-108
The London Classification of gastrointestinal
neuromuscular pathology: report on behalf of the Gastro 2009
International Working Group.
Gut
, 2010 Jul: 882-7
Complex I deficiency due to loss of Ndufs4 in the brain
results in progressive encephalopathy resembling Leigh
syndrome.
Proceedings of the National Academy of Sciences
of the United States of America
, 2010 Jun 15: 10996-1001
Fetal akinesia deformation sequence with delayed skeletal
muscle maturation and polymicrogyria: evidence for a
hypoxic/ischemic pathogenesis.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2010 May-Jun: 192-201
PHOX2B Immunolocalization of the Candidate Human
Retrotrapezoid Nucleus.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2009 Nov 4
Practical pathology and genetics of Hirschsprung's
disease.
Seminars in pediatric surgery
, 2009 Nov: 212-23
Gastrointestinal neuromuscular pathology: guidelines for
histological techniques and reporting on behalf of the Gastro
2009 International Working Group.
Acta neuropathologica
, 2009 Aug: 271-301
Normal and abnormal anatomy of the cerebellar vermis in
midgestational human fetuses.
Birth defects research. Part A, Clinical and
molecular teratology
, 2009 Aug: 700-9
Collagenous gastritis, a new spectrum of disease in
pediatric patients: two case reports.
Cases journal
, 2009 Jun 10: 7511
Architectural malformation of the muscularis propria as a
cause for intestinal pseudo-obstruction: two cases and a review
of the literature.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2009 Mar-Apr: 156-64
Calretinin immunohistochemistry versus
acetylcholinesterase histochemistry in the evaluation of suction
rectal biopsies for Hirschsprung Disease.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2009 Jan-Feb: 6-15
Retinal function and corresponding pathology in advanced
retinoblastoma.
Archives of ophthalmology
, 2008 Nov: 1507-12
Androgenetic/biparental mosaicism in an infant with
hepatic mesenchymal hamartoma and placental mesenchymal
dysplasia.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2008 Sep-Oct: 377-83
Hepatic mesenchymal hamartoma: a disorder of
imprinting.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2008 Jul-Aug: 264-5
Mice with mitochondrial complex I deficiency develop a
fatal encephalomyopathy.
Cell metabolism
, 2008 Apr: 312-20
Characterization of developing bowel transplanted from
transgenic erythropoietin receptor-deficient mouse
embryos.
Neonatology
, 2008: 56-63
Five cases of caudal regression with an aberrant abdominal
umbilical artery: Further support for a caudal
regression-sirenomelia spectrum.
American journal of medical genetics. Part
A
, 2007 Dec 15: 3175-84
Visceral neuropathy and intestinal pseudo-obstruction in a
murine model of a nuclear inclusion disease.
Gastroenterology
, 2007 Dec: 1971-8
Achondrogenesis.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2007 Jul-Aug: 253-5
A case of true hermaphroditism reveals an unusual
mechanism of twinning.
Human genetics
, 2007 Apr: 179-85
Genetic disruption of dopamine production results in
pituitary adenomas and severe prolactinemia.
Neuroendocrinology
, 2007: 48-57
Intestinal neuronal dysplasia type B: one giant ganglion
is not good enough.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2006 Nov-Dec: 444-52
Does bcl2 immunostaining really help with pathological
evaluation of intestinal pseudo-obstruction?
The American journal of surgical
pathology
, 2006 Aug: 1059; author reply 1059-62
Can we stop looking? Immunohistochemistry and the
diagnosis of Hirschsprung disease.
American journal of clinical
pathology
, 2006 Jul: 9-12
Dandy-Walker malformation complex: correlation between
ultrasonographic diagnosis and postmortem neuropathology.
Obstetrics and gynecology
, 2006 Mar: 685-93
Inhibition of protein kinase A in murine enteric neurons
causes lethal intestinal pseudo-obstruction.
Journal of neurobiology
, 2006 Feb 15: 256-72
Evaluation of Hox11L1 in the fmc/fmc rat model of chronic
intestinal pseudo-obstruction.
Journal of pediatric surgery
, 2005 Nov: 1760-5
Holoprosencephaly and limb reduction defects: a
consideration of Steinfeld syndrome and related
conditions.
American journal of medical genetics. Part
A
, 2005 May 1: 381-92
Multiple endocrine neoplasia type 2B and Hirschsprung's
disease.
Clinical gastroenterology and hepatology : the
official clinical practice journal of the American
Gastroenterological Association
, 2005 May: 423-31
Association of cloacal anomalies, caudal duplication, and
twinning.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2005 May-Jun: 339-54
Both CD1d antigen presentation and interleukin-12 are
required to activate natural killer T cells during Trypanosoma
cruzi infection.
Infection and immunity
, 2005 Mar: 1890-4
Hox11L1 expression by precursors of enteric smooth muscle:
an alternative explanation for megacecum in HOX11L1-/-
mice.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2005 Mar-Apr: 148-61
Critical proinflammatory and anti-inflammatory functions
of different subsets of CD1d-restricted natural killer T cells
during Trypanosoma cruzi infection.
Infection and immunity
, 2005 Jan: 181-92
Methods for induced abortion.
Obstetrics and gynecology
, 2005 Jan: 221; author reply 221-2
Malignant autosomal recessive osteopetrosis caused by
spontaneous mutation of murine Rank.
Journal of bone and mineral research : the
official journal of the American Society for Bone and Mineral
Research
, 2004 Oct: 1689-97
Pathologic quiz case: a 10-year-old boy with weakness,
lethargy, and edema. Arrhythmogenic right ventricular
cardiomyopathy, cardiomyopathic pattern.
Archives of pathology & laboratory
medicine
, 2004 Jun: 700-2
Immunohistologic evidence supports apoptosis, IgG
deposition, and novel macrophage/fibroblast crosstalk in the
pathologic cascade leading to congenital heart block.
Arthritis and rheumatism
, 2004 Jan: 173-82
Neuronal dysplasia: a controversial pathological correlate
of intestinal pseudo-obstruction.
American journal of medical genetics. Part
A
, 2003 Nov 1: 287-93
Genetic background modifies intestinal pseudo-obstruction
and the expression of a reporter gene in Hox11L1-/- mice.
Gastroenterology
, 2003 Nov: 1428-40
Quercetin, an over-the-counter supplement, causes
neuroblastoma-like elevation of plasma homovanillic acid.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2003 Nov-Dec: 547-51
Cytokine polymorphisms and histologic expression in
autopsy studies: contribution of TNF-alpha and TGF-beta 1 to the
pathogenesis of autoimmune-associated congenital heart
block.
Journal of immunology (Baltimore, Md. :
1950)
, 2003 Sep 15: 3253-61
A report of dizygous monochorionic twins.
The New England journal of
medicine
, 2003 Jul 10: 154-8
A little bit of everything: molecular genetics of
congenital hyperinsulinism.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2003 Jan-Feb: 3-5
Rulers rule: present and future applications of cerebellar
morphometry.
Pediatric and developmental pathology : the
official journal of the Society for Pediatric Pathology and the
Paediatric Pathology Society
, 2002 Sep-Oct: 422-4
Transdifferentiation of cardiac fibroblasts, a fetal
factor in anti-SSA/Ro-SSB/La antibody-mediated congenital heart
block.
Journal of immunology (Baltimore, Md. :
1950)
, 2002 Aug 15: 2156-63
Hydrocephalus and intestinal aganglionosis: is L1CAM a
modifier gene in Hirschsprung disease?
American journal of medical
genetics
, 2002 Feb 15: 51-6