Detalhe da pesquisa
1.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36446582
2.
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Int J Mol Sci
; 25(5)2024 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38474159
3.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
J Med Genet
; 59(6): 605-612, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33910934
4.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-35908153
5.
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Am J Med Genet A
; 188(3): 991-995, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34894068
6.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35445792
7.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
J Genet Couns
; 30(3): 693-700, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33142000
8.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Clin Genet
; 97(2): 362-369, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31600839
9.
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Genes (Basel)
; 12(9)2021 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34573342
10.
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Eur J Med Genet
; 64(11): 104338, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34500087
11.
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Genes (Basel)
; 12(5)2021 05 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34068396
12.
[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis]. / Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio.
An Pediatr (Engl Ed)
; 89(1): 3-11, 2018 Jul.
Artigo
Espanhol
| MEDLINE | ID: mdl-28958749
13.
Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.
Am J Med Genet
; 110(1): 73-7, 2002 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-12116275
14.
Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience.
Rev Esp Cardiol (Engl Ed)
; 71(7): 585-587, 2018 Jul.
Artigo
Inglês, Espanhol
| MEDLINE | ID: mdl-28579256
15.
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio / Comparative genomic hybridisation as a first option in genetic diagnosis: 1.000 cases and a cost-benefit analysis
An. pediatr. (2003. Ed. impr.)
; 89(1): 3-11, jul. 2018. tab, graf
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-176977
16.
Síndrome de Marfan y síndrome de Loeys-Dietz en la edad pediátrica: experiencia de un equipo multidisciplinar / Marfan syndrome and Loeys-Dietz syndrome in children: a multidisciplinary team experience
Rev. esp. cardiol. (Ed. impr.)
; 71(7): 585-587, jul. 2018. tab
Artigo
Espanhol
| IBECS (Espanha) | ID: ibc-178591
17.
Growth deficiency, facial anomalies, and brachydactyly (Frías syndrome): a second family.
Am J Med Genet A
; 137A(3): 288-91, 2005 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-16088912
18.
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13.
Am J Med Genet A
; 135(2): 211-3, 2005 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15887301
19.
The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): a description of a second case.
Am J Med Genet A
; 136(2): 175-8, 2005 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15948183
20.
Frequency of neural tube defects and Down syndrome in the same sibship: analysis of the Spanish ongoing case-control study.
Am J Med Genet A
; 126A(4): 430-1, 2004 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-15098244