Results 101 to 110 of about 10,203 (190)

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

, 2017
Maternal uniparental disomy for the entire chromosome 7 has so far been reported in three patients with intrauterine and postnatal growth retardation. Two were detected because they were homozygous for a cystic fibrosis mutation for which only the mother
Ilyina, Helena, Bernasconi, Fabiana, Robinson, Wendy P., Schinzel, Albert, Otten, Barto J., Méhes, Károly, Schoenle, Eugen, Schmitt, Silke, Hamel, Ben C.J., Kotzot, Dieter, Werder, Edmond, Lurie, Iosif W., Hergersberg, Martin   +12 more
core  

Two-fold Cdkn1c expression results in fetal growth restriction with characteristic features of Silver Russell Syndrome whereas loss-of function of Cdkn1c results in fetal overgrowth with characteristic features of Beckwith Weidemann Syndrome.

, 2016
Two-fold Cdkn1c expression results in fetal growth restriction with characteristic features of Silver Russell Syndrome whereas loss-of function of Cdkn1c results in fetal overgrowth with characteristic features of Beckwith Weidemann Syndrome.
Simon J. Tunster (2559961), Steven Millership (2559976), Antonio Vidal-Puig (53450), Mark Christian (22637), Tatyana Shelkovnikova (2559973), Matthew Van De Pette (2559964), Grainne I. McNamara (2559979), Rosalind M. John (2559970), Lindsay Benson (2559982), Stuart Peirson (2559967)   +9 more
core   +1 more source

Primordial Dwarfism: A Case Series From North East of Iran and Literature Review

Journal of Pediatrics Review, 2019
Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life.
Rahim Vakili, Somayyeh Hashemian
doaj  

Russell–Silver syndrome presenting with ambiguous genitalia

Journal of the Formosan Medical Association, 2017
I-Fan Chang, Yin-Hsiu Chien, Wen-Yu Tsai, Ni-Chung Lee   +3 more
doaj   +1 more source

Hygienic behaviors and use of dental care in patients with genetic syndromes

Scientific Reports
Patients with genetic syndromes require special dental attention because they have symptoms that promote plaque accumulation, dental erosion, dental caries and gingival diseases.
Paula Piekoszewska-Ziętek, Aneta Witt-Porczyk, Anna Turska-Szybka, Dorota Olczak-Kowalczyk   +3 more
doaj   +1 more source

Family Caregiver Distress with Children having Rare Genetic Disorders: A Qualitative Study involving Russell-Silver Syndrome in Taiwan

, 2013
[[abstract]]Aim.  To extend nursing knowledge of distress experienced by family caregivers of children with rare genetic disorders, by exploring the perspectives of caregivers of children with Russell–Silver Syndrome in Taiwan. Background.  Caring for a
Weng Hsin-Ju;Niu Dau-Ming;Sue Turale;Tsao Lee-Ing;Shih Fu-Jong;Noriko Yamamoto-Mitani;Chang Chun-Chi;Shih Fu-Jin, 曹麗英, Weng, Hsin-Ju;Miu, Dau-Ming'Turale, Sue;Tsao, Lee-Ing;Shih, Fu-Jong;Noriko, Yamamoto-Mitani;Chang, Chun-Chi;Shih, Fi-Jin   +2 more
core  

Action Induced Myoclonus in a 11-Year-Old Boy with Silver-Russell Syndrome. [PDF]

Mov Disord Clin Pract, 2023
Nou-Fontanet L, García-Navas D, Gómez-Martín H, Martorell L, Ortigoza-Escobar JD.   +4 more
europepmc   +1 more source

Genotype-Phenotype Correlations in Silver-Russell syndrome

, 2010
In der vorliegenden Arbeit erfolgte eine retrospektive Erfassung klinischer und laborchemischer Daten von Patienten mit Silver-Russel-Syndrom, die im Zeitraum von 1970 bis 2006 in der Endokrinologischen Ambulanz der Kinderklinik der Universität Tübingen ...
Seidel, Ann-Katrin
core  

Pure Choriocarcinoma of the Ovary in Silver-Russell Syndrome

Pure ovarian choriocarcinoma is an extremely rare malignancy that can be gestational or non-gestational in origin. Silver-Russell syndrome (SRS) is a rare congenital developmental disorder characterized by pre- and postnatal growth failure, relative ...
Ogawa, Chikako, Katayama, Takaaki, Nishida, Takeshi, Nakamura, Keiichiro, Haruma, Tomoko, Kusumoto, Tomoyuki, Seki, Noriko, Hiramatsu, Yuji   +7 more
core  

Anosmia in a patient with Silver-Russell syndrome. [PDF]

BMJ Case Rep
Kooper D, van der Kaay D.
europepmc   +1 more source