S. Yano

发表

The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-I.

Z. Pavlova, S. Yano, C. Li, 2013, JIMD reports.

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

R. Boles, T. Le, K. Moseley, 2003, Journal of Inherited Metabolic Disease.

Melatonin and dopamine as biomarkers to optimize treatment in phenylketonuria: effects of tryptophan and tyrosine supplementation.

K. Moseley, C. Azen, S. Yano, 2014, The Journal of pediatrics.

Familial Simpson–Golabi–Behmel syndrome: studies of X‐chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations

N. Matsumoto, K. Moseley, Y. Watanabe, 2011, Clinical genetics.

Glycosaminoglycan metabolism defects and atherosclerosis: frequent association of endothelial dysfunction in patients with Mucopolysaccharidosis

K. Moseley, C. Azen, Z. Pavlova, 2014, Journal of Inherited Metabolic Disease.

COBALAMIN C DISEASE PRESENTING WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

T. Coates, I. Gonzalez-Gomez, S. Yano, 2005, Pediatric hematology and oncology.

Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis

Arthur Partikian, R. Fine, L. Opas, 2020, Pediatric Nephrology.

Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited

K. Moseley, S. Yano, D. Younessi, 2009, Annals of neurology.

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry.

J. Mahoney, J. Vockley, B. Burton, 2014, Molecular genetics and metabolism.

2‐year‐old girl with pancytopenia due to vitamin B12 (cobalamin) deficiency

Elizabeth McGuire, S. Yano, Cynthia H. Ho, 2014, Journal of paediatrics and child health.

Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia

I. Yoshida, J. Morita, M. Yoshino, 1989, Journal of Inherited Metabolic Disease.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Y. Fukushima, N. Niikawa, N. Matsumoto, 2013, American journal of medical genetics. Part A.

Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies.

R. Koch, K. Moseley, S. Yano, 2009 .

Sapropterin Dihydrochloride (6R-BH4) and Maternal Phenylketonuria

R. Koch, K. Moseley, S. Yano, 2009 .

Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment.

R. Moats, R. Koch, K. Moseley, 2003, Molecular genetics and metabolism.

Measurement of temafloxacin in human scalp hair as an index of drug exposure.

K. Umemura, K. Kondo, S. Yano, 1994, Journal of pharmaceutical sciences.

Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia

R. Moats, R. Koch, K. Moseley, 2003, Journal of Inherited Metabolic Disease.

New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome

N. Miyake, A. Fujimoto, Jeanne Morin-Leisk, 2018, Clinical genetics.

Maternal isovaleric acidemia: observation of distinctive changes in plasma amino acids and carnitine profiles during pregnancy.

K. Moseley, S. Yano, C. Castelnovi, 2010, Clinica chimica acta; international journal of clinical chemistry.

Maternal Phenylketonuria International Collaborative Study revisited: evaluation of maternal nutritional risk factors besides phenylalanine for fetal congenital heart defects

T. Bottiglieri, K. Moseley, C. Azen, 2014, Journal of Inherited Metabolic Disease.

Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)

H. Shimada, E. Wartchow, M. Warren, 2018, Ultrastructural pathology.

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human mutation.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

Thomas M. Kitzler, V. Jobanputra, D. Goldstein, 2021, American journal of human genetics.

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)

L. Shaffer, C. Epstein, V. Sutton, 2003, Human Genetics.

A familial case of LEOPARD syndrome associated with a high-functioning autism spectrum disorder

T. Matsuishi, Y. Matsubara, T. Niihori, 2011, Brain and Development.

New from NPG

Tadashi Kaname, Kenji Naritomi, Hiroshi Doi, 2012, Nature Medicine.

High incidence of the R276X SALL1 mutation in sporadic but not familial Townes–Brocks syndrome and report of the first familial case

G. Mortier, A. Destrée, C. Skrypnyk, 2003, Journal of medical genetics.

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Silvery-gray hair in a newborn.

S. Yano, L. Wong, 2012, JAMA.

Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children’s hospital (1991-2017)

E. Wartchow, M. Warren, S. Yano, 2020, Ultrastructural pathology.

Autosomal recessive LMNA mutation causing Restrictive Dermopathy

L. Vachon, S. Yano, J. Johnson, 2010, Clinical genetics.

Evaluation of Tetrahydrobiopterin Therapy with Large Neutral Amino Acid Supplementation in Phenylketonuria: Effects on Potential Peripheral Biomarkers, Melatonin and Dopamine, for Brain Monoamine Neurotransmitters

K. Moseley, C. Azen, S. Yano, 2016, PloS one.

Pilot study to evaluate the effects of tetrahydrobiopterin on adult individuals with phenylketonuria with measurable maladaptive behaviors

K. Moseley, C. Azen, S. Yano, 2014, CNS Spectrums.

Large neutral amino acid supplementation increases melatonin synthesis in phenylketonuria: a new biomarker.

K. Moseley, C. Azen, S. Yano, 2013, The Journal of pediatrics.

Hyperoxaluria type I: therapeutic effects of pyridoxine hydrochloride and inheritance patterns of the disease in a family.

M. Yoshino, S. Yano, A. Nishiyori, 1988, The Kurume medical journal.

Detection of early end-organ damage by endothelial dysfunction with reactive hyperemia-digital peripheral arterial tonometry in patients with Fabry disease

K. Moseley, C. Azen, S. Yano, 2017 .

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

A. Wilde, Hanlin Gao, D. Tester, 2019, Heart rhythm.

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

R. Wierenga, R. Wanders, G. Mitchell, 2007, Molecular genetics and metabolism.

Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy

K. Moseley, Z. Pavlova, S. Yano, 2009, Journal of Inherited Metabolic Disease.

Long-term neurodevelopmental effects of early detection and treatment in a 6-year-old patient with argininaemia diagnosed by newborn screening

K. Moseley, L. Wong, Y. Watanabe, 2009, Journal of Inherited Metabolic Disease.

Johnson–McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: Report of a new case

J. Graham, D. Earl, S. Yano, 2003, American journal of medical genetics. Part A.

Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

K. Moseley, L. Vachon, N. Mahajan, 2020, Journal of Pediatric Genetics.

Case of the month A 3.5-year-old female with developmental delays, hepatomegaly, and coarse facies

J. Williams, M. Natowicz, R. Falk, 1997, European Journal of Pediatrics.

Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.

Yoriko Watanabe, Y. Watanabe, S. Yano, 2001, American journal of medical genetics.

Rapid detection of FGFR mutations in syndromic craniosynostosis by temporal temperature gradient gel electrophoresis.

R. Boles, T. Higashimoto, S. Yano, 1999, Clinical chemistry.

Rapid Detection of FGFR Mutations in Syndromic Cra- niosynostosis by Temporal Temperature Gradient Gel

R. Boles, Masamichi Ito, T. Higashimoto, 2005 .

P1148A in fibrillin‐1 is not a mutation leading to Shprintzen‐Goldberg syndrome

Yoriko Watanabe, M. Adachi, M. Yoshino, 1997, Human mutation.