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261.
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Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin. [electronic resource] by
- Alexandrou, Angelos
- Papaevripidou, Ioannis
- Tsangaras, Kyriakos
- Alexandrou, Ioanna
- Tryfonidis, Marios
- Christophidou-Anastasiadou, Violetta
- Zamba-Papanicolaou, Eleni
- Koumbaris, George
- Neocleous, Vassos
- Phylactou, Leonidas A
- Skordis, Nicos
- Tanteles, George A
- Sismani, Carolina
Producer: 20170406
In:
Journal of genetics vol. 95
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262.
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263.
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SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. [electronic resource] by
- Day, Gregory
- Szvetko, Attila
- Griffiths, Lyn
- McPhee, I Bruce
- Tuffley, John
- LaBrom, Robert
- Askin, Geoffrey
- Woodland, Peter
- McClosky, Eamonn
- Torode, Ian
- Tomlinson, Francis
Producer: 20090609
In:
Journal of orthopaedic research : official publication of the Orthopaedic Research Society vol. 27
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264.
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265.
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Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditions. [electronic resource] by
- Tropeano, Maria
- Howley, Deirdre
- Gazzellone, Matthew J
- Wilson, C Ellie
- Ahn, Joo Wook
- Stavropoulos, Dimitri J
- Murphy, Clodagh M
- Eis, Peggy S
- Hatchwell, Eli
- Dobson, Richard J B
- Robertson, Dene
- Holder, Muriel
- Irving, Melita
- Josifova, Dragana
- Nehammer, Annelise
- Ryten, Mina
- Spain, Debbie
- Pitts, Mark
- Bramham, Jessica
- Asherson, Philip
- Curran, Sarah
- Vassos, Evangelos
- Breen, Gerome
- Flinter, Frances
- Ogilvie, Caroline Mackie
- Collier, David A
- Scherer, Stephen W
- McAlonan, Grainne M
- Murphy, Declan G
Producer: 20171030
In:
Journal of medical genetics vol. 53
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266.
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267.
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268.
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Familial growth and skeletal features associated with SHOX haploinsufficiency. [electronic resource] by
- Munns, C F J
- Glass, I A
- Flanagan, S
- Hayes, M
- Williams, B
- Berry, M
- Vickers, D
- O'Rourke, P
- Rao, E
- Rappold, G A
- Hyland, V J
- Batch, J A
Producer: 20040427
In:
Journal of pediatric endocrinology & metabolism : JPEM vol. 16
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269.
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270.
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Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. [electronic resource] by
- Jorgez, Carolina J
- Weedin, John W
- Sahin, Aysegul
- Tannour-Louet, Mounia
- Han, Shuo
- Bournat, Juan C
- Mielnik, Anna
- Cheung, Sau Wai
- Nangia, Ajay K
- Schlegel, Peter N
- Lipshultz, Larry I
- Lamb, Dolores J
Producer: 20110614
In:
The Journal of clinical endocrinology and metabolism vol. 96
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271.
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272.
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273.
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Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis. [electronic resource] by
- Palka, G
- Stuppia, L
- Guanciali Franchi, P
- Chiarelli, F
- Fischetto, R
- Borrelli, P
- Giannotti, A
- Fioretti, G
- Rinaldi, M M
- Mingarelli, R
- Rappold, G A
- Calabrese, G
Producer: 20001207
In:
Clinical genetics vol. 57
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274.
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IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). [electronic resource] by
- Caliebe, Janina
- Broekman, Sander
- Boogaard, Merel
- Bosch, Cathy A J
- Ruivenkamp, Claudia A L
- Oostdijk, Wilma
- Kant, S G
- Binder, Gerhard
- Ranke, Michael B
- Wit, Jan M
- Losekoot, Monique
Producer: 20120928
In:
Hormone research in paediatrics vol. 77
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275.
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Prepubertal girls with Turner syndrome and children with isolated SHOX deficiency have similar bone geometry at the radius. [electronic resource] by
- Soucek, O
- Zapletalova, J
- Zemkova, D
- Snajderova, M
- Novotna, D
- Hirschfeldova, K
- Plasilova, I
- Kolouskova, S
- Rocek, M
- Hlavka, Z
- Lebl, J
- Sumnik, Z
Producer: 20130930
In:
The Journal of clinical endocrinology and metabolism vol. 98
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276.
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The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis. [electronic resource] by
- Kant, Sarina G
- van der Kamp, Hetty J
- Kriek, Marjolein
- Bakker, Egbert
- Bakker, Boudewijn
- Hoffer, Mariette J V
- van Bunderen, Patrick
- Losekoot, Monique
- Maas, Saskia M
- Wit, Jan M
- Rappold, Gudrun
- Breuning, Martijn H
Producer: 20110321
In:
The Journal of clinical endocrinology and metabolism vol. 96
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277.
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Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. [electronic resource] by
- Rao, E
- Weiss, B
- Fukami, M
- Rump, A
- Niesler, B
- Mertz, A
- Muroya, K
- Binder, G
- Kirsch, S
- Winkelmann, M
- Nordsiek, G
- Heinrich, U
- Breuning, M H
- Ranke, M B
- Rosenthal, A
- Ogata, T
- Rappold, G A
Producer: 19970616
In:
Nature genetics vol. 16
Availability: No items available.
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278.
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280.
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