K. Naritomi

发表

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

J. Opitz, Y. Fukushima, N. Niikawa, 2007, American journal of human genetics.

Jin Ok Yang, Jazelyn M Salvador, Shuhua Xu, 2009, Science.

16q21 is critical for 16q deletion syndrome

K. Naritomi, N. Shiroma, Y. Izumikawa, 1988, Clinical genetics.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

Cytogenetic and molecular study of Angelman syndrome.

N. Niikawa, Y. Kuroki, K. Naritomi, 1990, American journal of medical genetics.

A Study of HLA in Japanese Patients with Rheumatic Fever

K. Naritomi, K. Miyata, M. Hokonohara, 1980 .

No mutation in RAS‐MAPK pathway genes in 30 patients with Kabuki syndrome

Daisuke Sato, Y. Fukushima, N. Niikawa, 2008, American journal of medical genetics. Part A.

Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in ASXL3

J. Inazawa, T. Kaname, K. Yanagi, 2017, Clinical case reports.

Cosmid clones from microdissected human chromosomal region 15q11–q13

Yusuke Nakamura, N. Niikawa, T. Ohta, 1993, Japanese Journal of Human Genetics.

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data

T. Kaname, K. Yanagi, Y. Chinen, 2020, Human Genome Variation.

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

Y. Fukushima, N. Niikawa, S. Nagataki, 1992, American journal of medical genetics.

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

N. Niikawa, K. Yoshiura, N. Matsumoto, 2005, American journal of medical genetics. Part A.

A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation

T. Kaname, K. Yanagi, Y. Chinen, 2019, Human Genome Variation.

Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder

Y. Fukushima, T. Kaname, K. Yanagi, 2012, Autism research and treatment.

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.

[Osteofibrous dysplasia of tibia and fibula].

K. Naritomi, 2001, Ryoikibetsu shokogun shirizu.

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

T. Kaname, K. Yanagi, Y. Chinen, 2022, Human Genome Variation.

Midkine as a novel target for antibody therapy in osteosarcoma.

I. Owan, T. Kaname, K. Yanagi, 2007, Biochemical and biophysical research communications.

Retrospective analysis of clonality and detection of residual disease in myeloid leukemia by FISH on long‐term stored bone marrow smears

K. Naritomi, N. Hyakuna, Etsuo Ito, 1998, Acta paediatrica Japonica : Overseas edition.

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome

N. Matsumoto, Toshiyuki Yamamoto, K. Kurosawa, 2006, American journal of medical genetics. Part A.

Diagnosis of variant forms of hyperphenylalaninemia using filter paper spots of urine.

K. Narisawa, K. Tada, K. Naritomi, 1983, The Journal of pediatrics.

Pigmentary dysplasias and chromosomal mosaicism: report of 9 cases.

H. Ohashi, T. Kajii, K. Naritomi, 1992, American journal of medical genetics.

Y‐derived sequence detected in minute chromosomes by polymerase chain reaction and in situ hybridization

F. Kishi, S. Matsuura, T. Kajii, 1992, Clinical Genetics.

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7

N. Shimozawa, Yasuyuki Suzuki, K. Naritomi, 1989, Human Genetics.

Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7

Yasuyuki Suzuki, K. Naritomi, K. Hirayama, 1988, Human Genetics.

Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome

T. Kaname, K. Yanagi, K. Naritomi, 2013, BMC Medical Genetics.

Delineation of the da-Silva syndrome.

K. Naritomi, T. Tohma, N. Shiroma, 1994, American journal of medical genetics.

Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.

S. Schwartz, N. Spinner, J. Crolla, 2000, American journal of human genetics.

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): Further delineation of 2q medial monosomy syndrome

Y. Chinen, K. Naritomi, T. Tohma, 1996, Japanese Journal of Human Genetics.

Trisomy 9q3 syndrome: a case report and review of the literature

K. Naritomi, N. Shiroma, Y. Izumikawa, 1989, Clinical genetics.

Replication asynchrony between homologs 15q11.2: Cytogenetic evidence for genomic imprinting

K. Naritomi, Y. Izumikawa, K. Hirayama, 2005, Human Genetics.

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

T. Kaname, K. Naritomi, A. Ganaha, 2014, Journal of Human Genetics.

Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome

Daisuke Sato, Y. Fukushima, N. Niikawa, 2008 .

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Y. Fukushima, N. Niikawa, K. Yoshiura, 2009, Journal of Human Genetics.

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2006, Nature Genetics.

New from NPG

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

Haploinsufficiency of NSD1 causes Sotos syndrome

Y. Fukushima, N. Niikawa, K. Yoshiura, 2002, Nature Genetics.

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.

No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients.

N. Niikawa, H. Tonoki, O. Tsutsumi, 2001, American journal of medical genetics.

A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.

T. Kaname, K. Yanagi, Y. Chinen, 2020, Human genome variation.

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions

N. Niikawa, T. Ogata, N. Matsumoto, 2003, Journal of medical genetics.

The costello syndrome: A boy with thick mitral valves and arrhythmias

K. Naritomi, T. Tohma, N. Shiroma, 1993, Japanese Journal of Human Genetics.

No detectable genomic aberrations by BAC array CGH in Kabuki make‐up syndrome patients

Y. Fukushima, N. Niikawa, N. Matsumoto, 2006, American journal of medical genetics. Part A.

Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

N. Matsumoto, K. Ogata, Y. Makita, 2012, Journal of Human Genetics.

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2)

N. Niikawa, S. Matsuura, I. Kondo, 1991, American journal of medical genetics.

Brachmann-de Lange syndrome and congenital heart disease.

M. Masuno, Y. Kuroki, I. Kondo, 1998, American journal of medical genetics.

Apert syndrome with partial polysyndactyly: A proposal on the classification of acrocephalosyndactyly

K. Naritomi, N. Shiroma, Y. Izumikawa, 1988, Japanese Journal of Human Genetics.

Two sisters with Toriello-Carey syndrome.

K. Naritomi, T. Tohma, Y. Izumikawa, 1999, American journal of medical genetics.

Brief Clinical Report Two Sisters With Toriello-Carey Syndrome

Y. Chinen, K. Naritomi, T. Tohma, 1999 .

Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)

T. Kaname, K. Yanagi, Y. Chinen, 2006, American journal of medical genetics. Part A.

Application of an Original Computerized Database (UR‐DBMS) for Diagnosis of the Malformation Syndromes

K. Naritomi, 1998 .

Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novel FGD1 mutations

N. Okamoto, T. Kaname, K. Yanagi, 2006, American journal of medical genetics. Part A.

[Oral-facial-skeletal syndrome].

K. Naritomi, 2001, Ryoikibetsu shokogun shirizu.

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

N. Saitou, N. Niikawa, S. Mano, 2012, Journal of Human Genetics.

A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

T. Kaname, K. Yanagi, K. Naritomi, 2012, Journal of Human Genetics.

Osteogenesis Irnperfecta in Twins: Case Report and Review of Literature

K. Naritomi, K. Miyata, K. Sameshima, 1988 .

Megalocornea-mental retardation syndrome: An additional case report

Y. Chinen, K. Naritomi, T. Tohma, 1997, Japanese Journal of Human Genetics.

Proximal symphalangism with "coarse" facial appearance, mixed hearing loss, and chronic renal failure: new malformation syndrome?

Y. Sato, K. Naritomi, S. Hirose, 2001, American journal of medical genetics.

Agenesis of corpus callosum in three sibs

Y. Chinen, K. Naritomi, Yoshihide Asato, 1997, Japanese Journal of Human Genetics.

Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

N. Niikawa, K. Yoshiura, N. Matsumoto, 2008, Journal of Medical Genetics.

Genetic and Diagnostic Studies of Mental Retardation

K. Naritomi, S. Ohdo, T. Terawaki, 1984 .

A Case of 4p Trisomy Syndrome Originated from Maternal rcp(4; | 4)(p | 5. |;p ||.|): An Analysis with CBG, Ag‐NORs and Cd Banding Techniques in Prometaphase Cells

K. Naritomi, Y. Izumikawa, K. Hirayama, 1988 .

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

Y. Chinen, K. Naritomi, 1995, Japanese Journal of Human Genetics.

Partial trisomy of distal 8q derived from mother with mosaic 8q23.3→24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I

K. Naritomi, K. Hirayama, 1989, Human Genetics.

Determination of the breakpoints and the parental origin of a ring 22 chromosome: An analysis by high-resolution banding technique, quinacrine and silver stainings

K. Naritomi, K. Hirayama, 1988, Japanese Journal of Human Genetics.

Inverted insertion of chromosome 7q and ectrodactyly.

K. Naritomi, T. Tohma, Y. Izumikawa, 1993, American journal of medical genetics.

Proximal 3p Deletion: Case Report and Review of the Literature

K. Naritomi, K. Sameshima, S. Ohdo, 1988, Acta paediatrica Japonica : Overseas edition.

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

T. Kaname, K. Yanagi, Y. Chinen, 2020, European journal of medical genetics.

TWO SISTERS WITH GUTTATE PSORIASIS RESPONSIVE TO TONSILLECTOMY

K. Naritomi, K. Ogata, I. Kikuchi, 1979, The Journal of dermatology.

Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene.

S. Onishi, Y. Takeshima, M. Matsuo, 1996, Biochemical and biophysical research communications.

Novel alternative splicing of human faciogenital dysplasia 1 gene

T. Kaname, K. Yanagi, Y. Chinen, 2004, Congenital anomalies.

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

J. Opitz, Y. Fukushima, N. Niikawa, 1988, American journal of medical genetics.

A commentary on the promise of whole-exome sequencing in medical genetics

Tadashi Kaname, Kumiko Yanagi, Kenji Naritomi, 2014, Journal of Human Genetics.

Prenatal diagnosis of X‐linked recessive Lenz microphthalmia syndrome

S. Saitoh, T. Kaname, S. Mizuno, 2013, The journal of obstetrics and gynaecology research.

NAOSITE : Nagasaki University ' s Academic Output SITE

N. Niikawa, K. Yoshiura, N. Matsumoto, 2017 .

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

N. Niikawa, Jooyoung Lee, K. Joo, 2014, Cellular signalling.

［原著］Two novel mutations of the FGDl gene in Japanese patients with Aarskog Scott syndrome

T. Kaname, K. Yanagi, Y. Chinen, 2004 .

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

N. Saitou, N. Niikawa, S. Mano, 2012, Journal of Human Genetics.

[Goltz syndrome].

K. Naritomi, 2000, Ryoikibetsu shokogun shirizu.

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome

Y. Fukushima, N. Niikawa, K. Yoshiura, 2009, Journal of Human Genetics.