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Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2015, v. 28, n. 7/8, p. 967, doi. 10.1515/jpem-2014-0531
By:
- Steichen-Gersdorf, Elisabeth;
- Lorenz-Depiereux, Bettina;
- Strom, Tim Matthias;
- Shaw, Nicholas J.
Publication type:
Article
Clinical characteristics and management of cranial diabetes insipidus in infants.
Published in:
Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 11/12, p. 1041, doi. 10.1515/jpem-2013-0026
By:
- Karthikeyan, Ambika;
- Abid, Noina;
- Sundaram, Prem C. B.;
- Shaw, Nicholas J.;
- Barrett, Tim G.;
- Högler, Wolfgang;
- Kirk, Jeremy M. W.
Publication type:
Article
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
Published in:
European Journal of Endocrinology, 2021, v. 184, n. 5, p. K15, doi. 10.1530/EJE-20-0152
By:
- Bandhakavi, Meena;
- Wanaguru, Amy;
- Ayuk, Loveline;
- Kirk, Jeremy M.;
- Barrett, Timothy G.;
- Kershaw, Melanie;
- Högler, Wolfgang;
- Shaw, Nicholas J.
Publication type:
Article
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
Published in:
European Journal of Endocrinology, 2019, v. 180, n. 3, p. 213, doi. 10.1530/EJE-18-0854
By:
- Idkowiak, Jan;
- Elhassan, Yasir S.;
- Mannion, Pascoe;
- Smith, Karen;
- Webster, Rachel;
- Saraff, Vrinda;
- Barrett, Timothy G.;
- Shaw, Nicholas J.;
- Krone, Nils;
- Dias, Renuka P.;
- Kershaw, Melanie;
- Kirk, Jeremy M.;
- Högler, Wolfgang;
- Krone, Ruth E.;
- O'Reilly, Michael W.;
- Arlt, Wiebke
Publication type:
Article
Management of osteoporosis in children.
Published in:
European Journal of Endocrinology, 2008, v. 159, n. S1, p. S33, doi. 10.1530/EJE-08-0282
By:
- Nicholas J Shaw
Publication type:
Article
CYP3A4 mutation causes vitamin D-dependent rickets type 3.
Published in:
2018
By:
- Roizen, Jeffrey D.;
- Dong Li;
- O'Lear, Lauren;
- Javaid, Muhammad K.;
- Shaw, Nicholas J.;
- Ebeling, Peter R.;
- Nguyen, Hanh H.;
- Rodda, Christine P.;
- Thummel, Kenneth E.;
- Thacher, Tom D.;
- Hakonarson, Hakon;
- Levine, Michael A.;
- Li, Dong
Publication type:
journal article
GATA3 haplo-insufficiency causes human HDR syndrome.
Published in:
Nature, 2000, v. 406, n. 6794, p. 419, doi. 10.1038/35019088
By:
- Van Esch, Hilde;
- Groenen, Peter;
- Nesbit, M. Andrew;
- Schuffenhauer, Simone;
- Lichtner, Peter;
- Vanderlinden, Gert;
- Harding, Brian;
- Beetz, Rolf;
- Bilous, Rudolf W.;
- Holdaway, Ian;
- Shaw, Nicholas J.;
- Fryns, Jean-Pierre;
- Van de Ven, Wim;
- Thakker, Rajesh V.;
- Devriendt, Koenraad
Publication type:
Article
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 22, p. 4904, doi. 10.1093/hmg/dds326
By:
- Campeau, Philippe M.;
- Lu, James T.;
- Sule, Gautam;
- Jiang, Ming-Ming;
- Bae, Yangjin;
- Madan, Simran;
- Högler, Wolfgang;
- Shaw, Nicholas J.;
- Mumm, Steven;
- Gibbs, Richard A.;
- Whyte, Michael P.;
- Lee, Brendan H.
Publication type:
Article
Amalgamated Reference Data for Size-Adjusted Bone Densitometry Measurements in 3598 Children and Young Adults-the ALPHABET Study.
Published in:
Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 172, doi. 10.1002/jbmr.2935
By:
- Crabtree, Nicola J;
- Shaw, Nicholas J;
- Bishop, Nicholas J;
- Adams, Judith E;
- Mughal, M Zulf;
- Arundel, Paul;
- Fewtrell, Mary S;
- Ahmed, S Faisal;
- Treadgold, Laura A;
- Högler, Wolfgang;
- Bebbington, Natalie A;
- Ward, Kate A
Publication type:
Article
Reply: Response to: Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 8, p. 1537, doi. 10.1002/jbmr.2561
By:
- Whyte, Michael P;
- Madson, Katherine L;
- McAlister, William H;
- Mumm, Steven;
- Novack, Deborah V;
- Blair, Jo C;
- Shaw, Nicholas J
Publication type:
Article
Response to: Rapid Skeletal Turnover in Radiographic Mimic of Osteopetrosis Might Be Secondary to Systemic Mastocytosis.
Published in:
Journal of Bone & Mineral Research, 2015, v. 30, n. 5, p. 946, doi. 10.1002/jbmr.2455
By:
- Whyte, Michael P;
- Madson, Katherine L;
- McAlister, William H;
- Mumm, Steven;
- Novack, Deborah V;
- Blair, Jo C;
- Shaw, Nicholas J
Publication type:
Article
Rapid Skeletal Turnover in a Radiographic Mimic of Osteopetrosis.
Published in:
Journal of Bone & Mineral Research, 2014, v. 29, n. 12, p. 2601, doi. 10.1002/jbmr.2289
By:
- Whyte, Michael P;
- Madson, Katherine L;
- Mumm, Steven;
- McAlister, William H;
- Novack, Deborah V;
- Blair, Jo C;
- Helliwell, Timothy R;
- Stolina, Marina;
- Abernethy, Laurence J;
- Shaw, Nicholas J
Publication type:
Article
The relationship between bone mass and body composition in children with hypothalamic and simple obesity.
Published in:
Clinical Endocrinology, 2014, v. 80, n. 1, p. 85, doi. 10.1111/cen.12263
By:
- Shaikh, M. Guftar;
- Crabtree, Nicola;
- Kirk, Jeremy M. W.;
- Shaw, Nicholas J.
Publication type:
Article
Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.
Published in:
PLoS Genetics, 2016, v. 12, n. 7, p. 1, doi. 10.1371/journal.pgen.1006156
By:
- Cabral, Wayne A.;
- Ishikawa, Masaki;
- Garten, Matthias;
- Makareeva, Elena N.;
- Sargent, Brandi M.;
- Weis, MaryAnn;
- Barnes, Aileen M.;
- Webb, Emma A.;
- Shaw, Nicholas J.;
- Ala-Kokko, Leena;
- Lacbawan, Felicitas L.;
- Högler, Wolfgang;
- Leikin, Sergey;
- Blank, Paul S.;
- Zimmerberg, Joshua;
- Eyre, David R.;
- Yamada, Yoshihiko;
- Marini, Joan C.
Publication type:
Article

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