Y. Narumi

发表

Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome

R. Hennekam, H. Cavé, D. Wieczorek, 2007, American journal of medical genetics. Part A.

Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His

Y. Fukushima, Y. Matsubara, Y. Aoki, 2011, American Journal of Medical Genetics. Part A.

Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene

Y. Makita, K. Fujieda, Y. Matsubara, 2007, Journal of pediatric hematology/oncology.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Hae-Ryong Song, T. Cho, S. Ikegawa, 2010, American journal of medical genetics. Part A.

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.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome

Y. Fukushima, S. Kojima, K. Wakui, 2012, American journal of medical genetics. Part A.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

Y. Matsubara, T. Niihori, Y. Aoki, 2008, Human mutation.

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Albert David, 2010, Human mutation.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

Koichi Tabayashi, Kenji Kurosawa, Yoichi Matsubara, 2008, Journal of Human Genetics.

Microarray and FISH‐based genotype–phenotype analysis of 22 Japanese patients with Wolf–Hirschhorn syndrome

Y. Fukushima, H. Ohashi, N. Okamoto, 2014, American journal of medical genetics. Part A.

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

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

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature

Y. Fukushima, R. Kosaki, Y. Aoki, 2014, American journal of medical genetics. Part A.

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature

Y. Fukushima, Y. Igawa, K. Wakui, 2010, American journal of medical genetics. Part A.

Exome sequencing in a family with an X‐linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients

Y. Fukushima, N. Matsumoto, N. Miyake, 2013, Clinical genetics.

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation

Toshimitsu Kobayashi, Y. Matsubara, T. Niihori, 2006, Journal of Human Genetics.

A patient with early onset Huntington disease and severe cerebellar atrophy

T. Shiihara, S. Yoshinari, H. Ohashi, 2009, American journal of medical genetics. Part A.

Availability of DMD mRNA Transcripts Analysis in a patient with Dystrophinopathy having a Nonsense Mutation

A. Nakamura, Y. Hayashi, I. Nishino, 2013 .

Hypomyelination with atrophy of the basal ganglia and cerebellum in an infant with Down syndrome.

Y. Fukushima, T. Shiihara, N. Matsumoto, 2011, Clinical dysmorphology.

Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu–Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome

Y. Fukushima, W. Park, Y. Rhee, 2013, American journal of medical genetics. Part A.

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome

H. Cavé, A. Verloes, H. Ohashi, 2008, Journal of Human Genetics.

The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders

Y. Matsubara, T. Niihori, Y. Aoki, 2008, Human mutation.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome

Y. Fukushima, S. Kojima, K. Wakui, 2012, American journal of medical genetics. Part A.