Y. Fukushima

发表

Standard growth curves for Japanese patients with Prader-Willi syndrome.

N. Niikawa, H. Tonoki, Y. Kuroki, 2000, American journal of medical genetics.

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.

T. Toda, T. Chiyonobu, H. Ishida, 2002, American journal of medical genetics.

Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.

G. Nishimura, T. Nagai, T. Hasegawa, 1995, American journal of medical genetics.

Rearrangement of the MOZ gene in pediatric therapy‐related myelodysplastic syndrome with a novel chromosomal translocation t(2;8)(p23;p11)

N. Kakazu, T. Imamura, A. Morimoto, 2003, Genes, chromosomes & cancer.

Pseudoachondroplasia with de novo deletion [del(11)(q21q22.2)].

F. Hosoda, M. Ohki, S. Ikegawa, 1998, American journal of medical genetics.

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

Y. Fukushima, H. Ohashi, Y. Hasegawa, 1997, American journal of medical genetics.

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations

Y. Fukushima, Y. Hasegawa, Y. Fukushima, 1991, Clinical genetics.

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

T. Hasegawa, Y. Fukushima, H. Ohashi, 1993, Clinical genetics.

Deletion of the KIT and PDGFRA genes in a patient with piebaldism.

R. Spritz, Y. Fukushima, S. Droetto, 1992, American journal of medical genetics.

Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.

A. Ballabio, G. Rappold, T. Ogata, 1996, American journal of medical genetics.

Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.

Y. Fukushima, N. Niikawa, H. Tonoki, 1991, American journal of medical genetics.

Currarino triad (anorectal malformation, sacral bony abnormality and presacral mass) with partial trisomy of chromosomes 13q and 20p

T. Nagai, R. Katoh, T. Hasegawa, 1994, Clinical genetics.

New diagnostic method for Pallister-Killian syndrome: detection of i(12p) in interphase nuclei of buccal mucosa by fluorescence in situ hybridization.

S. Ishikiriyama, Y. Fukushima, H. Ohashi, 1993, American journal of medical genetics.

The Coffin‐Lowry Syndrome: Four New Cases In Three Families

Y. Fukushima, H. Tonoki, T. Tomita, 1983 .

Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation

N. Niikawa, E. Hatchwell, K. Yoshiura, 2004, Journal of Medical Genetics.

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.

Brachmann-de Lange syndrome and congenital heart disease.

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

Tetramelic mirror-image polydactyly and a de novo balanced translocation between 2p23.3 and 14q13.

K. Wakui, T. Aihara, M. Sato, 1997, American journal of medical genetics.

Börjeson-Forssman-Lehmann syndrome in a woman with skewed X-chromosome inactivation.

Y. Fukushima, H. Ohashi, Y. Iwamoto, 1999, American journal of medical genetics.

Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

S. Matsuura, H. Ohashi, T. Kajii, 1993, American journal of medical genetics.

Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.

G. M. Taylor, M. Dixon, C. Toomes, 1995, Human molecular genetics.

Interstitial duplication 8q22-q24: report of a case proven by FISH with mapped cosmid probes.

S. Ishikiriyama, S. Hamano, K. Wakui, 1996, American journal of medical 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.

[Proteus syndrome].

T. Kubota, Y. Fukushima, 2000, Ryoikibetsu shokogun shirizu.

Ring chromosome 15 syndrome in an adult female.

Y. Yamada, H. Sakai, Y. Fukushima, 1996, Journal of intellectual disability research : JIDR.

"Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probes.

T. Kosho, Y. Fukushima, H. Ohashi, 2005, Genetic Counseling.

Radiological changes of frontometaphyseal dysplasia in the neonate

G. Nishimura, T. Aihara, Y. Fukushima, 1995, Pediatric Radiology.

Another observation of Langer-type sponastrime dysplasia variant.

Y. Fukushima, G. Nishimura, Y. Fukushima, 1998, American journal of medical genetics.

Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

S. Ikegawa, G. Nishimura, Y. Fukushima, 1995, American journal of medical genetics.

Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome).

G. Nishimura, T. Nagai, T. Hasegawa, 1994, American journal of medical genetics.