De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Authors: Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

Source: In Genetics in Medicine October 2023 25(10)

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

Authors: Lokulo‐Sodipe, Oluwakemi, Giabicani, Eloïse, Canton, Ana P. M., Ferrand, Nawfel, Child, Jenny, Wakeling, Emma L., Binder, Gerhard, Netchine, Irène, Mackay, Deborah J. G., Inskip, Hazel M., Byrne, Christopher D., Temple, I. Karen, Davies, Justin H.

Source: Clinical endocrinology. 97(3):284-292

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170807457.0x000001&indx=1&recIds=ETOCvdc_100170807457.0x000001

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Authors: Lokulo-Sodipe, Oluwakemi, Inskip, Hazel M, Byrne, Christopher D, Child, Jenny, Wakeling, Emma L, Mackay, Deborah J G, Temple, I Karen, Davies, Justin H

Source: Journal of Clinical Endocrinology & Metabolism; Nov2024, Vol. 109 Issue 11, pe2001-e2008, 8p

Subject Terms: BONE density, BODY mass index, LOW birth weight, ADIPOSE tissues, MEDIAN (Mathematics)

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.

Authors: Tooze, Rebecca S., Calpena, Eduardo, Twigg, Stephen R. F., D'Arco, Felice, Wakeling, Emma L., Wilkie, Andrew O. M.

Source: Journal of Medical Genetics; Jul2023, Vol. 60 Issue 7, p712-716, 5p

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations

Authors: Ramesh, Raakhee, Chen, Huijia, Kukula, Anna, Wakeling, Emma L., Rustin, Malcolm H.A., McLean, W.H. Irwin

Source: In Journal of Dermatological Science 2011 64(3):159-162

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Authors: Li, Yun, Laue, Kathrin, Temtamy, Samia, Aglan, Mona, Kotan, L. Damla, Yigit, Gökhan, Canan, Husniye, Pawlik, Barbara, Nürnberg, Gudrun, Wakeling, Emma L., Quarrell, Oliver W., Baessmann, Ingelore, Lanktree, Matthew B., Yilmaz, Mustafa, Hegele, Robert A., Amr, Khalda, May, Klaus W., Nürnberg, Peter, Topaloglu, A. Kemal, Hammerschmidt, Matthias, Wollnik, Bernd

Source: In The American Journal of Human Genetics 2010 87(6):757-767

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1(sprouty homolog 1) function

Authors: Tooze, Rebecca S, Calpena, Eduardo, Twigg, Stephen R F, D’Arco, Felice, Wakeling, Emma L, Wilkie, Andrew O M

Source: Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 7 p712-716, 5p

A novel ELP1mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

Authors: Kojic, Marija, Abbassi, Nour E. H., Lin, Ting-Yu, Jones, Alun, Wakeling, Emma L., Clement, Emma, Nakou, Vasiliki, Singleton, Matthew, Dobosz, Dominika, Kaliakatsos, Marios, Glatt, Sebastian, Wainwright, Brandon J.

Source: Journal of Human Genetics; 20230101, Issue: Preprints p1-9, 9p

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

Authors: Monk, David, Wakeling, Emma L., Proud, Virginia

Source: American Journal of Human Genetics; January 2000, Vol. 66 Issue 1, p36-46, 11p

Experiences of adolescents living with Silver-Russell syndrome.

Authors: Ballard, Lisa Marie, Jenkinson, Elizabeth, Byrne, Christopher D., Child, Jenny C., Inskip, Hazel, Lokulo-Sodipe, Oluwakemi, Mackay, Deborah J. G., Wakeling, Emma L., Davies, Justin Huw, Temple, I. Karen, Fenwick, Angela

Source: Archives of Disease in Childhood; Dec2021, Vol. 106 Issue 12, p1195-1201, 7p

Subject Terms: TEENAGERS, PSYCHOTHERAPY, QUALITY of life, SMALL for gestational age, ADULTS, BULLYING, DATING violence, PAIN diagnosis, ADAPTABILITY (Personality), RESEARCH, PAIN, RESEARCH methodology, SOCIAL stigma, SILVER-Russell syndrome, INTERVIEWING, DISABILITY evaluation, MEDICAL cooperation, EVALUATION research, QUALITATIVE research, COMPARATIVE studies, FATIGUE (Physiology), EMOTIONS, DWARFISM, PSYCHOLOGICAL resilience

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood.

Authors: Lokulo-Sodipe, Oluwakemi, Ballard, Lisa, Child, Jenny, Inskip, Hazel M., Byrne, Christopher D., Ishida, Miho, Moore, Gudrun E., Wakeling, Emma L., Fenwick, Angela, Mackay, Deborah J. G., Davies, Justin Huw, Temple, I. Karen

Source: Journal of Medical Genetics; Oct2020, Vol. 57 Issue 10, p683-691, 9p

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Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues.

Authors: Wakeling, Emma L, Abu-Amero, Sayeda N, Stanier, Philip, Preece, Michael A, Moore, Gudrun E

Source: European Journal of Human Genetics. Mar1998, Vol. 6 Issue 2, p158. 7p.

Subject Terms: *EPIDERMAL growth factor, *HUMAN abnormalities, *FETAL development

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Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood.

Authors: Ballard, Lisa Marie, Jenkinson, Elizabeth, Byrne, Christopher D., Child, Jenny C., Davies, Justin Huw, Inskip, Hazel, Lokulo-Sodipe, Oluwakemi, Mackay, Deborah J. G., Wakeling, Emma L., Temple, I. Karen, Fenwick, Angela

Source: Archives of Disease in Childhood; Jan2019, Vol. 104 Issue 1, p76-82, 7p

Subject Terms: ADULTS, CHILDREN, SHORT stature, SEMI-structured interviews, SYNDROMES, PAIN diagnosis, DWARFISM, ADAPTABILITY (Personality), FATIGUE (Physiology), NEEDS assessment, PAIN, PSYCHOLOGY, RESEARCH funding, SEX distribution, STATURE, SILVER-Russell syndrome

Geographic Terms: UNITED Kingdom

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De novo PHF5Avariants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Authors: Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin S., Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., Kutsche, Kerstin

Source: Genetics in Medicine; October 2023, Vol. 25 Issue: 10

Maternal variants in NLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Authors: Begemann, Matthias, Rezwan, Faisal I, Beygo, Jasmin, Docherty, Louise E, Kolarova, Julia, Schroeder, Christopher, Buiting, Karin, Chokkalingam, Kamal, Degenhardt, Franziska, Wakeling, Emma L, Kleinle, Stephanie, González Fassrainer, Daniela, Oehl-Jaschkowitz, Barbara, Turner, Claire L S, Patalan, Michal, Gizewska, Maria, Binder, Gerhard, Bich Ngoc, Can Thi, Chi Dung, Vu, Mehta, Sarju G, Baynam, Gareth, Hamilton-Shield, Julian P, Aljareh, Sara, Lokulo-Sodipe, Oluwakemi, Horton, Rachel, Siebert, Reiner, Elbracht, Miriam, Temple, Isabel Karen, Eggermann, Thomas, Mackay, Deborah J G

Source: Journal of Medical Genetics (JMG); 2018, Vol. 55 Issue: 7 p497-504, 8p