140 related articles for article (PubMed ID: 28690993)
1. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.
Cho EK; Kim J; Yang A; Cho SY; Jin DK
Ann Pediatr Endocrinol Metab; 2017 Jun; 22(2):129-132. PubMed ID: 28690993
[TBL] [Abstract][Full Text] [Related]
2. The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.
Leroy C; Landais E; Briault S; David A; Tassy O; Gruchy N; Delobel B; Grégoire MJ; Leheup B; Taine L; Lacombe D; Delrue MA; Toutain A; Paubel A; Mugneret F; Thauvin-Robinet C; Arpin S; Le Caignec C; Jonveaux P; Beri M; Leporrier N; Motte J; Fiquet C; Brichet O; Mozelle-Nivoix M; Sabouraud P; Golovkine N; Bednarek N; Gaillard D; Doco-Fenzy M
Eur J Hum Genet; 2013 Jun; 21(6):602-12. PubMed ID: 23073310
[TBL] [Abstract][Full Text] [Related]
3. 2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report.
Giraldo-Ocampo S; Pachajoa H
BMC Pediatr; 2022 Oct; 22(1):569. PubMed ID: 36192675
[TBL] [Abstract][Full Text] [Related]
4. [Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].
Szczałuba K; Obersztyn E; Ziemkiewicz K; Jamsheer A; Bocian E; Mazurczak T
Med Wieku Rozwoj; 2007; 11(1):57-64. PubMed ID: 17965466
[TBL] [Abstract][Full Text] [Related]
5. 2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.
Mehraein Y; Pfob M; Steinlein O; Aichinger E; Eggert M; Bubendorff V; Mannhart A; Müller S
Cytogenet Genome Res; 2015; 146(1):33-8. PubMed ID: 26112830
[TBL] [Abstract][Full Text] [Related]
6. A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.
Simşek-Kiper PO; Utine GE; Alanay Y; Aktaş D; Alikaşifoğlu M; Boduroğlu K
Turk J Pediatr; 2011; 53(5):558-60. PubMed ID: 22272459
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4.
Villavicencio-Lorini P; Klopocki E; Trimborn M; Koll R; Mundlos S; Horn D
Eur J Hum Genet; 2013 Jul; 21(7):743-8. PubMed ID: 23188045
[TBL] [Abstract][Full Text] [Related]
8. Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE; Casas KA
Am J Med Genet C Semin Med Genet; 2007 Nov; 145C(4):357-71. PubMed ID: 17910077
[TBL] [Abstract][Full Text] [Related]
9. Genotype-Phenotype Correlations in 2q37-Deletion Syndrome: An Update of the Clinical Spectrum and Literature Review.
Gavril EC; Nucă I; Pânzaru MC; Ivanov AV; Mihai CT; Antoci LM; Ciobanu CG; Rusu C; Popescu R
Genes (Basel); 2023 Feb; 14(2):. PubMed ID: 36833393
[TBL] [Abstract][Full Text] [Related]
10. The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.
Jean-Marçais N; Decamp M; Gérard M; Ribault V; Andrieux J; Kottler ML; Plessis G
Am J Med Genet A; 2015 Jan; 167A(1):185-9. PubMed ID: 25402011
[TBL] [Abstract][Full Text] [Related]
11. Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism.
Hacıhamdioğlu B; Arslan M; Sarı E; Kurtçu K; Yesilkaya E
J Pediatr Endocrinol Metab; 2013; 26(7-8):793-5. PubMed ID: 23645122
[TBL] [Abstract][Full Text] [Related]
12. 2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.
Elli FM; de Sanctis L; Madeo B; Maffini MA; Bordogna P; Pirelli A; Arosio M; Mantovani G
Front Endocrinol (Lausanne); 2019; 10():604. PubMed ID: 31555217
[TBL] [Abstract][Full Text] [Related]
13. Brachydactyly Mental Retardation Syndrome Diagnosed in Adulthood.
Mahendhar R; Zarghamravanbakhsh P; Pavlovic MN; Butuc R; Sachmechi I
Cureus; 2018 Aug; 10(8):e3169. PubMed ID: 30357083
[TBL] [Abstract][Full Text] [Related]
14. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome.
Sakai Y; Souzaki R; Yamamoto H; Matsushita Y; Nagata H; Ishizaki Y; Torisu H; Oda Y; Taguchi T; Shaw CA; Hara T
BMC Med Genomics; 2014 Apr; 7():19. PubMed ID: 24755370
[TBL] [Abstract][Full Text] [Related]
15. 1p36 deletion syndrome confirmed by fluorescence
Kang DS; Shin E; Yu J
Korean J Pediatr; 2016 Nov; 59(Suppl 1):S14-S18. PubMed ID: 28018437
[TBL] [Abstract][Full Text] [Related]
16. RDCI, the vasoactive intestinal peptide receptor: a candidate gene for the features of Albright hereditary osteodystrophy associated with deletion of 2q37.
Power MM; James RS; Barber JC; Fisher AM; Wood PJ; Leatherdale BA; Flanagan DE; Hatchwell E
J Med Genet; 1997 Apr; 34(4):287-90. PubMed ID: 9138150
[TBL] [Abstract][Full Text] [Related]
17. Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.
Devillard F; Guinchat V; Moreno-De-Luca D; Tabet AC; Gruchy N; Guillem P; Nguyen Morel MA; Leporrier N; Leboyer M; Jouk PS; Lespinasse J; Betancur C
Am J Med Genet A; 2010 Sep; 152A(9):2346-54. PubMed ID: 20684015
[TBL] [Abstract][Full Text] [Related]
18. Siblings with opposite chromosome constitutions, dup(2q)/del(7q) and del(2q)/dup(7q).
Shim SH; Shim JS; Min K; Lee HS; Park JE; Park SH; Hwang E; Kim M
Gene; 2014 Jan; 534(1):100-6. PubMed ID: 24095776
[TBL] [Abstract][Full Text] [Related]
19. Brachydactyly mental retardation syndrome with growth hormone deficiency.
Arefzadeh A; Khalighinejad P; Ataeinia B; Parvar P
Endocrinol Diabetes Metab Case Rep; 2018; 2018():. PubMed ID: 30087780
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
