Results 71 to 80 of about 1,914,079 (156)

증례 보고 : Russell-Silver Syndrome

, 2002
Russell-Silver syndrome is a type of intrauterine growth retardation, characterized by short stature noted at birth, hemiatrophy or asymmetry, variation in sexual development and other abnormalities, including cafe-aulait pigmentation and clinodactyly ...
장기택, 이진, 김종철
core  

Unusual association of torticollis with Russell-Silver syndrome. [PDF]

BMJ Case Rep, 2023
Kaggare Puttaraju M, Manjunatha BS, Patil K, Kaiyoor LS.   +3 more
europepmc   +1 more source

Silver-russell syndrome: A case report

, 2012
Silver-Russell sendromu, intrauterin ve postnatal büyüme geriliği, relatif makrosefali, üçgen yüz, vücut asimetrisi ve el 5. parmakta klinodaktili özelliklerinin görüldüğü bir genetik hastalıktır.
Filiz Hazan, Ece Bebek, Ferda Özkınay, Hurşit Apa, Korcan Demir   +4 more
core  

The Case of Dilated Cardiomiopathy, the Girl of Three Years from the Silver-Rassel Syndrom

Медицинский вестник Юга России, 2012
Dilated cardiomyopathy is a serious disabling disease with unclear etiology. In some cases, its occurrence is associated with genetic mutations. In this context the case of dilated cardiomyopathy of the three years old girl from the Silver-Russell ...
A. A. Lebedenko, A. M. Sarichev, E. A. Tarasova, T. A. Yanovskaya, E. V. Nosova, A. V. Kharlamova   +5 more
doaj  

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

PLoS ONE, 2013
BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (
Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata   +17 more
doaj   +1 more source

Deep Brain Stimulation for an Unusual Presentation of Myoclonus Dystonia Associated with Russell-Silver Syndrome. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Shpiner DS, Peabody TK, Luca CC, Jagid J, Moore H.   +4 more
europepmc   +1 more source

Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome. [PDF]

Mov Disord Clin Pract, 2023
Heiser H, Smith K, Duis J, Forbes E.
europepmc   +1 more source

A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

Indian Journal of Endocrinology and Metabolism, 2012
Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Namburi Rajendra Prasad, Ponnala Amaresh Reddy, T S Karthik, Mithun Chakravarthy, Faizal Ahmed   +4 more
doaj   +1 more source

Silver-Russell Syndrome Synonym: Russell-Silver Syndrome

, 2019
International audienceClinical characteristics Silver-Russell Syndrome (SRS) is typically characterized by asymmetric gestational growth restriction resulting in affected individuals being born small for gestational age, with relative macrocephaly at ...
Saal, Howard, M, Netchine, Irene, Harbison, Madeleine, D   +2 more
core   +1 more source

SILVER-RUSSELL SYNDROME IN COMBINATION WITH INFANTILE CEREBRAL PALSY: CLINICAL OBSERVATION

Медицина в Кузбассе
A case of combination a rare genetic pathology – Silver-Russell syndrome – with cerebral palsy in three-year-old child is described. The cause of this syndrome is loss of chromosome’s 11p15 (11p15LOM) methylation, maternal uni-parental disomy of ...
Нина Геннадьевна Коновалова, Оксана Евгеньевна Жарская, Ольга Александровна Загородникова, Елена Алексеевна Полукарова   +3 more
doaj