Search Results - "Bergman, Philip B"
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Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development
Published in Molecular genetics & genomic medicine (01-03-2020)“…Background GATA‐binding protein 4 (GATA4) and Friend of GATA 2 protein (FOG2, also known as ZFPM2) form a heterodimer complex that has been shown to influence…”
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Associations Between Hyperphagia, Symptoms of Sleep Breathing Disorder, Behaviour Difficulties and Caregiver Well-Being in Prader-Willi Syndrome: A Preliminary Study
Published in Journal of autism and developmental disorders (01-09-2022)“…Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and…”
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Role of cross‐campus multidisciplinary team meetings in decision‐making for children and adolescents with differences of sex development/intersex
Published in Journal of paediatrics and child health (01-09-2021)“…Aim Management of children with differences/disorders of sex development (DSD) is complex with limited evidence to guide clinical decisions. Regular…”
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Sleep‐disordered breathing in Australian children with Prader‐Willi syndrome following initiation of growth hormone therapy
Published in Journal of paediatrics and child health (01-02-2022)“…Aim In children with Prader‐Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening…”
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Factitious increase in thyrotropin in a neonate caused by a maternally transmitted interfering substance
Published in Clinical chemistry (Baltimore, Md.) (01-03-2006)Get full text
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Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
Published in European journal of pediatrics (01-06-2022)“…Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to…”
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A Teenage Girl with Unexpected Pubertal Changes
Published in Clinical chemistry (Baltimore, Md.) (01-06-2018)“…[...]in the urogenital sinus and urogenital tubercle, it acts as a prohormone for DHT, the third hormone of male virilization. The biochemical investigations…”
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Expression of the IGF System in Normal and Diabetic Transgenic (mRen-2)27 Rat Eye
Published in Investigative ophthalmology & visual science (01-08-2005)“…In the present study, a recently described model of diabetic eye disease was used to investigate the distribution of the insulin-like growth factor (IGF)…”
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Published in Clinical chemistry (Baltimore, Md.) (01-10-2006)Get full text
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Effect of Turner's syndrome and X-linked imprinting on cognitive status: analysis based on pedigree data
Published in Brain & development (Tokyo. 1979) (01-10-2005)“…The effects of a monosomy of either the maternally or paternally derived X chromosome in Turner's syndrome (TS) on general neurocognitive status and some…”
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Factitious increase in thyrotropin in a neonate caused by a maternally transmitted interfering substance
Published in Clinical chemistry (01-03-2006)Get full text
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