Literature DB >> 5322798

Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son.

F M Kenny, L Linarelli.   

Abstract

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Year:  1966        PMID： 5322798     DOI： 10.1001/archpedi.1966.02090050133013

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  17 in total

1.  Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.

Authors:  Roger E Stevenson; Cam K Brasington; Cindy Skinner; Richard J Simensen; J Edward Spence; Shelli Kesler; Allan L Reiss; Charles E Schwartz
Journal:  Am J Med Genet A       Date:  2007-10-01       Impact factor: 2.802

2.  Kenny-Caffey syndrome without the CATCH 22 deletion.

Authors:  T Yorifuji; J Muroi; A Uematsu
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

Authors:  M A Sabry; M Zaki; S J Abul Hassan; D G Ramadan; M A Abdel Rasool; S A al Awadi; Q al Saleh
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

4.  The nanophthalmic macula.

Authors:  J C Serrano; P R Hodgkins; D S Taylor; G A Gole; A Kriss
Journal:  Br J Ophthalmol       Date:  1998-03       Impact factor: 4.638

5.  Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype.

Authors:  Loucas Christodoulou; Anil Krishnaiah; Christina Spyridou; Vincenzo Salpietro; Siobhan Hannan; Anand Saggar; Kshitij Mankad; Akash Deep; Maria Kinali
Journal:  Quant Imaging Med Surg       Date:  2015-06

6.  Rare diseases in clinical endocrinology: a taxonomic classification system.

Authors:  G Marcucci; L Cianferotti; P Beck-Peccoz; M Capezzone; F Cetani; A Colao; M V Davì; E degli Uberti; S Del Prato; R Elisei; A Faggiano; D Ferone; C Foresta; L Fugazzola; E Ghigo; G Giacchetti; F Giorgino; A Lenzi; P Malandrino; M Mannelli; C Marcocci; L Masi; F Pacini; G Opocher; A Radicioni; M Tonacchera; R Vigneri; M C Zatelli; M L Brandi
Journal:  J Endocrinol Invest       Date:  2014-11-07       Impact factor: 4.256

7.  Kenny syndrome: description of additional abnormalities and molecular studies.

Authors:  I Bergada; A Schiffrin; H Abu Srair; P Kaplan; J Dornan; D Goltzman; G N Hendy
Journal:  Hum Genet       Date:  1988-09       Impact factor: 4.132

8.  Short stature, mental retardation, and hypoparathyroidism: a new syndrome.

Authors:  R J Richardson; J M Kirk
Journal:  Arch Dis Child       Date:  1990-10       Impact factor: 3.791

9.  FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Authors:  Sheila Unger; Maria W Górna; Antony Le Béchec; Sonia Do Vale-Pereira; Maria Francesca Bedeschi; Stefan Geiberger; Giedre Grigelioniene; Eva Horemuzova; Faustina Lalatta; Ekkehart Lausch; Cinzia Magnani; Sheela Nampoothiri; Gen Nishimura; Duccio Petrella; Francisca Rojas-Ringeling; Akari Utsunomiya; Bernhard Zabel; Sylvain Pradervand; Keith Harshman; Belinda Campos-Xavier; Luisa Bonafé; Giulio Superti-Furga; Brian Stevenson; Andrea Superti-Furga
Journal:  Am J Hum Genet       Date:  2013-05-16       Impact factor: 11.025

10.  The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

Authors:  F Majewski; W Rosendahl; M Ranke; K Nolte
Journal:  Eur J Pediatr       Date:  1981-03       Impact factor: 3.183
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