Detalles de la búsqueda
1.
Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.
Am J Med Genet A
; 191(2): 400-407, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36345653
2.
Correction to: Growth references for Japanese individuals with Noonan syndrome.
Pediatr Res
; 92(6): 1820, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35869303
3.
Growth references for Japanese individuals with Noonan syndrome.
Pediatr Res
; 79(4): 543-8, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26650342
4.
Selection of infants who potentially have congenital anomalies of the kidney and urinary tract from a large cohort for a more thorough examination.
Clin Exp Nephrol
; 19(4): 678-82, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25255780
5.
Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss.
Pediatr Int
; 57(5): 880-3, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26114601
6.
Acute lymphoblastic leukemia in a male with Simpson-Golabi-Behmel syndrome.
Am J Med Genet A
; 176(7): 1680-1682, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29737011
7.
Testosterone replacement therapy to improve secondary sexual characteristics and body composition without adverse behavioral problems in adult male patients with Prader-Willi syndrome: an observational study.
Am J Med Genet A
; 161A(9): 2167-73, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23897656
8.
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
Am J Med Genet A
; 161A(9): 2339-46, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23913798
9.
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet A
; 161A(6): 1221-37, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23637025
10.
Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.
Hum Genet
; 131(1): 121-30, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21735174
11.
Growth hormone secretion and its effect on height in pediatric patients with different genotypes of Prader-Willi syndrome.
Am J Med Genet A
; 158A(6): 1477-80, 2012 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22585665
12.
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
J Med Genet
; 48(1): 32-7, 2011 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21037275
13.
Corrigendum to "Validation of auxological reference values for Japanese children with Noonan syndrome and comparison with growth in children with Turner syndrome".
Clin Pediatr Endocrinol
; 31(3): 210, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35928385
14.
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
J Hum Genet
; 56(5): 398-400, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21412251
15.
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Hum Mutat
; 31(3): 284-94, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20052757
16.
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
Am J Med Genet A
; 152A(4): 875-85, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20358597
17.
A patient with early onset Huntington disease and severe cerebellar atrophy.
Am J Med Genet A
; 149A(4): 598-601, 2009 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-19253382
18.
[Spread of X-chromosome inactivation into chromosome 15 is associated with Prader Willi syndrome phenotype in a boy with a t (X ; 15) (p21.1 ; q11.2) translocation].
No To Hattatsu
; 46(2): 121-4, 2014 Mar.
Artículo
en Japonés
| MEDLINE | ID: mdl-24738189
19.
De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.
Clin Dysmorphol
; 17(1): 31-34, 2008 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-18049078
20.
Functional analysis of human mutations in homeodomain transcription factor PITX3.
BMC Mol Biol
; 8: 84, 2007 Sep 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-17888164