Y. Kuroki

发表

Idiopathic hypoparathyroidism in two patients with 22q11 microdeletion.

Y. Makita, M. Masuno, K. Maizumi, 1995, Journal of medical genetics.

Cytogenetic and molecular study of Angelman syndrome.

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

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

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

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

Y. Makita, M. Masuno, K. Tachibana, 1998, European Journal of Pediatrics.

Follow-up Study of Atlanto-axial Instability in Down's Syndrome without Separate Odontoid Process

Y. Kuroki, Toshikazu Ohsawa, T. Izawa, 1989, Spine.

Are Down syndrome patients predisposed to Moyamoya disease?

Y. Fukushima, Y. Kuroki, Y. Kondo, 1986, European Journal of Pediatrics.

HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome

J. Inazawa, K. Ihara, Kyoko Watanabe, 2011, Journal of Human Genetics.

Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma)

M. Masuno, Y. Kuroki, K. Imaizumi, 1997, American journal of medical genetics.

Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13

Y. Fukushima, Y. Kuroki, A. Iizuka, 1987, Japanese Journal of Human Genetics.

A case of 21q-syndrome with normal SOD-1 activity

Yoshifumi Yamamoto, Y. Kuroki, H. Nakai, 1979, Human Genetics.

Ehlers‐Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene

Y. Kuroki, W. Fujimoto, K. Kadota, 2012, Congenital anomalies.

Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.

Rocco, M. Raghunath, Y. Kuroki, 1995, The American journal of pathology.

Paternal UPD14 is responsible for a distinctive malformation complex.

Y. Kuroki, T. Okuyama, G. Nishimura, 2002, American journal of medical genetics.

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2).

M. Masuno, Y. Kuroki, K. Imaizumi, 1997, American journal of medical genetics.

Natural History of Cri-du-chat Syndrome

Y. Kuroki, M. Masuno, K. Imaizumi, 1998 .

DNA deletion and its parental origin in Angelman syndrome patients.

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

XX/XY chromosomal mosaicism presenting a chordee without hypospadias associated with scrotal transposition.

Y. Kuroki, K. Sakamoto, I. Morita, 1978, The Journal of urology.

Rubinstein-Taybi Syndrome Caused by Submicroscopic Deletions within 16p 1 3.3

H. Himmelbauer, R. Hennekam, Y. Kuroki, 2006 .

Miller-Dieker syndrome due to maternal cryptic translocation t(10;17) (q26.3;p13.3)

M. Masuno, Y. Kuroki, K. Imaizumi, 1995, American journal of medical genetics.

Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2).

M. Masuno, Y. Kuroki, G. Nishimura, 1995, Journal of medical genetics.

Longitudinal growth and height velocity of Japanese children with Down's syndrome

K. Tachibana, Y. Kuroki, K. Kurosawa, 2003, Acta paediatrica.

Autosomal dominant inheritance in Setleis syndrome.

Y. Makita, M. Masuno, Y. Kuroki, 1995, American journal of medical genetics.

Molecular and clinical study of 61 Angelman syndrome patients.

Y. Fukushima, N. Niikawa, S. Saitoh, 1994, American journal of medical genetics.

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

E. Mariman, H. Himmelbauer, R. Stallings, 1993, American journal of human genetics.

Currarino triad with a terminal deletion 7q35-->qter.

M. Masuno, Y. Kuroki, Y. Tanaka, 1996, Journal of medical genetics.

A Familial Survey of a B/C Chromosome Translocation (With 6 Text-figures and 2 Tables)

Y. Kuroki, T. Kajii, T. Aya, 1967 .

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

Yoshifumi Yamamoto, Y. Kuroki, H. Nakai, 1979, Human Genetics.

Two cases of 8p trisomy in one sibship

Y. Kuroki, Y. Nakagome, I. Matsui, 1975, Clinical genetics.

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Y. Kuroki, T. Tsukamoto, Y. Suzuki, 1996, American journal of human genetics.

Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n‐acetylgalactosamine‐6‐sulfate sulfatase gene in a classical Morquio disease

Y. Kuroki, N. Shimozawa, Yasuyuki Suzuki, 1996, Human mutation.

Epidemiology of limb-body wall complex in Japan.

M. Masuno, Y. Kuroki, K. Kurosawa, 1994, American journal of medical genetics.

Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies.

Y. Fukushima, Y. Kuroki, T. Ito, 1986, American journal of medical genetics.

Dominant inheritance of Kabuki make-up syndrome.

Y. Kuroki, K. Imaizumi, Y. Miyazawa, 1997, American journal of medical genetics.

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

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

Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature.

M. Masuno, Y. Kuroki, K. Imaizumi, 1999, American journal of medical genetics.

Apple-peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2) mat.

M. Masuno, Y. Kuroki, T. Nishi, 1999, American journal of medical genetics.

Y. Fukushima, Y. Kuroki, M. Masuno, 1990, Japanese Journal of Human Genetics.

A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation.

Y. Kuroki, I. Matsui, A. Hata, 1981, The Journal of pediatrics.

Asphyxiating thoracic dystrophy: Surgical correction and 2-year follow-up in a girl

Y. Kuroki, F. Takada, K. Imaizumi, 1994, Japanese Journal of Human Genetics.

Mortality and survival for Down syndrome in Japan.

Y. Kuroki, K. Takeshita, K. Iinuma, 1981, American journal of human genetics.

Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).

Y. Kuroki, K. Imaizumi, 1991, American journal of medical genetics.

A case of 9p- syndrome

Yoshifumi Yamamoto, Y. Kuroki, H. Nakai, 1977, Human Genetics.

Trisomy 18q

Yoshifumi Yamamoto, Y. Kuroki, I. Matsui, 2004, Human Genetics.

A case of partial trisomy 17 resulting from X-autosomal translocation.

Y. Kuroki, Y. Endo, Y. Yamamoto, 1979, Journal of medical genetics.

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1).

N. Niikawa, Y. Kuroki, K. Kurosawa, 2002, American journal of medical genetics.

Pilomatrixomas in Rubinstein-Taybi syndrome.

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

Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.

Y. Makita, M. Masuno, Y. Kuroki, 1994, American journal of medical genetics.

Chromosome aberrations in Rubinstein‐Taybi syndrome

M. Masuno, Y. Kuroki, K. Kurosawa, 1993, Clinical genetics.

Brachmann-de Lange syndrome and congenital heart disease.

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

Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation.

M. Corey, J. Rommens, M. Masuno, 1999, American journal of medical genetics.

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome

K. Kosaki, Y. Kuroki, Y. Tsurusaki, 2020, American journal of medical genetics. Part A.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Y. Fukushima, Y. Kuroki, N. Okamoto, 2005, Brain and Development.

Further evidence for the involvement of human chromosome 6p24 in the aetiology of orofacial clefting.

G. Mirza, J. Ragoussis, Y. Kuroki, 1998, Journal of medical genetics.

Toriello-Carey syndrome with endocardial fibroelastosis.

M. Masuno, Y. Kuroki, Y. Tanaka, 1999, American journal of medical genetics.

Epilepsy in childhood down syndrome

Y. Kuroki, Yasuyuki Suzuki, H. Iwamoto, 1984, Brain and Development.

Partial distal 12q trisomy with arachnoid cyst

Y. Fukushima, Y. Kuroki, M. Masuno, 1987, Japanese Journal of Human Genetics.

Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy

Y. Kuroki, Y. Tomoda, A. Mitsudome, 2003, Journal of child neurology.

A case of r(21) with stigmata of atypical Down syndrome

Yoshifumi Yamamoto, Y. Kuroki, N. Ogasawara, 2004, Human Genetics.

Prenatal diagnosis of GM2-gangliosidosis Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy

Yoshiyuki Suzuki, Y. Kuroki, H. Inoue, 1993, Brain and Development.

[Urogenital anomalies in patients with Sotos syndrome].

Y. Fukushima, Y. Kuroki, M. Moriyama, 1984, Nihon Hinyokika Gakkai zasshi. The japanese journal of urology.

[Three Japanese children with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)].

M. Masuno, Y. Kuroki, Y. Matsushita, 1998, No to hattatsu = Brain and development.

Metacarpophalangeal pattern profile analysis in 14 Japanese children with Sotos syndrome

Y. Kuroki, F. Takada, K. Imaizumi, 1994, Japanese Journal of Human Genetics.

Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by the Polymerase Chain Reaction (PCR)

K. Hayashi, Y. Kuroki, H. Hamada, 1992 .

Precocious puberty in Kabuki makeup syndrome.

Y. Fukushima, Y. Kuroki, T. Kajii, 1987, The Journal of pediatrics.

Anal atresia: Effect of smoking and drinking habits during pregnancy

Y. Kuroki, I. Okazaki, P. Yuan, 1995, Japanese Journal of Human Genetics.

On the Ring 13 Chromosome in a Malformed Infant with Special Regard to the Break Point

Y. Kuroki, Y. Nagano, 1974 .

A case of an interstitial deletion of the long arm of chromosome 5: 46,XX,del(5)(q15q22)

Y. Fukushima, Y. Kuroki, Tetsuo Fukuda, 1984, Japanese Journal of Human Genetics.

Translocation (X;13)(p11.21;q12.3) in a girl with incontinentia pigmenti and bilateral retinoblastoma.

Y. Fukushima, Y. Kuroki, T. Kajii, 1985, Annales de genetique.

A female infant with pure duplication 12q24.2→qter

Y. Kuroki, S. Ohta, A. Ieshima, 1984, Japanese Journal of Human Genetics.

Congenital heart defect in a patient with the Hallermann-Streiff syndrome.

Y. Makita, M. Masuno, Y. Kuroki, 1994, American journal of medical genetics.

Down syndrome and maternal age in Japan, 1950–1973

Y. Kuroki, Yoshifumi Yamamoto, I. Matsui, 1977, Clinical genetics.

Male with type II autosomal recessive cutis laxa

Y. Makita, Y. Kuroki, K. Kurosawa, 1994, Clinical genetics.

Current Status and Perspectives in the Kanagawa Birth Defects Monitoring Program (KAMP) *

Y. Kuroki, Hiroshi Konishi, 1984 .

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

M. Masuno, K. Tachibana, Y. Kuroki, 1999, American journal of medical genetics.

Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case.

M. Masuno, Y. Kuroki, K. Imaizumi, 1998, Clinical dysmorphology.

Brain MRI findings of older patients with Pallister–Killian syndrome

Y. Kuroki, K. Kurosawa, N. Aida, 2006, Brain and Development.

Cerebro-costo-mandibular syndrome

K. Tachibana, Y. Kuroki, Y. Yamamoto, 1980, Human Genetics.

Ring 18 mosaicism in identical twins

A. Hata, Y. Kuroki, Yasuyuki Suzuki, 2004, Human Genetics.

Monozygotic twins with discordant sex.

Y. Kuroki, R. Kuromaru, K. Kurosawa, 1992, Acta geneticae medicae et gemellologiae.

Anorectal anomalies associated with Kabuki make-up syndrome.

Y. Kuroki, T. Nishi, H. Yamamoto, 1992, Journal of pediatric surgery.

Assignment of the human cytosolic acetoacetyl-coenzyme A thiolase (ACAT2) gene to chromosome 6q25.3-q26.

M. Masuno, Y. Kuroki, N. Kondo, 1996, Genomics.

Noonan syndrome and cavernous hemangioma of the brain.

M. Masuno, Y. Kuroki, S. Yamanaka, 1999, American journal of medical genetics.

SPONASTRIME dysplasia: report on a female patient with severe skeletal changes.

Y. Makita, M. Masuno, K. Tachibana, 1996, American journal of medical genetics.

Trends in occurrence of twin births in Japan

Y. Kuroki, K. Kurosawa, M. Masuno, 2012, American journal of medical genetics. Part A.

Monitoring of congenital anomalies

Y. Kuroki, 1988 .

A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease.

Y. Kuroki, K. Kurosawa, K. Imaizumi, 1993, Human molecular genetics.

Familial retinoblastoma (mother and son) with 13q14 deletion

Y. Fukushima, Y. Kuroki, I. Kondo, 1987, Human Genetics.

Family study of common fragile sites

Y. Kuroki, Y. Sugio, 1989, Human Genetics.

Growth Patterns in Children with Down Syndrome: From Birth to 15 Years of Age1

Kenji Kurosawa, Yoshikazu Kuroki, Kiyoshi Imaizumi, 1995 .

Predisposition to autoimmune thyroiditis in ring chromosome 18 syndrome

Y. Fukushima, N. Niikawa, Y. Kuroki, 1984, The Japanese Journal of Human Genetics.

The Prader-Willi syndrome and interstitial deletion of chromosome 15: High-resolution chromosome analyses of 14 patients with the Prader-Willi syndrome and of 5 suspected infants

Y. Fukushima, N. Niikawa, Y. Kuroki, 1984, Japanese Journal of Human Genetics.

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies: another observation.

M. Masuno, Y. Kuroki, G. Nishimura, 2000, Clinical Dysmorphology.

Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25).

Y. Makita, M. Masuno, Y. Kuroki, 1995, American journal of medical genetics.

Prenatal diagnosis of GM2-gangliosidosis Immunofluorescence analysis of ganglioside GM2 in cultured amniocytes by confocal laser scanning microscopy

Yoshiyuki Suzuki, Y. Kuroki, H. Inoue, 1993, Brain and Development.

Familial Occurrence of The Noonan Syndrome

Y. Kuroki, Y. Takemitsu, M. Takeshita, 1973 .

Supernumerary ring chromosome 5 identified by FISH.

M. Masuno, Y. Kuroki, K. Imaizumi, 1999, American journal of medical genetics.

The dermatoglyphic pattern of the Kabuki make‐up syndrome

N. Niikawa, Y. Kuroki, T. Kajii, 1982, Clinical genetics.