about
Sorting nexin 3 (SNX3) is disrupted in a patient with a translocation t(6;13)(q21;q12) and microcephaly, microphthalmia, ectrodactyly, prognathism (MMEP) phenotypeMutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformationsA new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature reviewThe essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulationNovel cleft susceptibility genes in chromosome 6qInterstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.Telomeres: a diagnosis at the end of the chromosomesThe role of BAF (mSWI/SNF) complexes in mammalian neural development.Mosaic ring chromosome 6 in an infant with significant patent ductus arteriosus and multiple congenital anomalies.Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report.Delineation of subtelomeric deletion of the long arm of chromosome 6.Prenatal diagnosis of upper extremity malformations with ultrasonography: Diagnostic features and perinatal outcome.Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion.A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Deletion of the long arm of chromosome 6: report on a new case with intractable epilepsy.Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6.Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.A de novo interstitial 6q deletion in a boy with a split hand malformation.Interstitial deletions at 6q14.1q15 associated with developmental delay and a marfanoid phenotype.Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.Fine Mapping of 6q23.1 Identifies TULP4 as Contributing to Clefts.Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.Proof of partial imbalances 6q and 11q due to maternal complex balanced translocation analyzed by microdissection of multicolor labeled chromosomes (FISH-MD) in a patient with Dandy-Walker variant.6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases.A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region.Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.Double Interstitial Deletion of the Long Arm of Chromosome 6 in a Patient with Pierre Robin Sequence, Dysmorphisms, and Severe Developmental Delay.Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review.Insights into 6Q21-Q22: Refinement of the critical region for acro-cardio-facial syndrome.Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
P2860
Q24672616-52A00BA2-8C02-441B-B753-59CBC8DF55E8Q24675944-B469B69D-6CD6-4376-AD2B-D5F0D568D624Q26795664-1A2B1B40-910F-4C64-A872-78A2B0281362Q28591404-9336B9D5-E9AF-4AF9-B131-6945EF0D317BQ34077161-009CFB2E-EB4F-453D-9FE8-795DB370822FQ34139374-7ED55BA5-22FA-4836-867F-1314BCC49E5EQ34326205-99129707-775A-472A-A5B4-FEE674B8F64FQ35154981-C1494085-BC62-4815-B519-B381D17CE38EQ35512942-C5579D05-FEE6-4854-9564-437AA8C1F4FBQ36134641-A89ED9AC-498C-4B05-951B-2730525744CAQ36695357-D87CB306-D1BB-4C7C-B470-4BD585622256Q37318122-A43D5302-615A-4A77-80ED-FBB5B6F0ECF0Q37939276-8A967206-CAC1-4BD4-A46D-4A5D67EC0E1FQ39164402-783B0053-EA76-474B-A2DF-BBFF192FBD2FQ39512338-54AA8EE2-5692-47B5-B348-A1057814585FQ41135371-D1F7A493-8C22-405A-A7E4-3AF5FA4B8DD0Q41919262-641FD77B-252E-4811-9776-B1CA97498381Q41925977-EF44D149-C41C-4DCA-B721-052C03003376Q41931080-578C7A5C-68B9-4630-9A9E-6AF4A43468F5Q41939639-6343C015-AC1F-4225-B80C-E26D1FF38F53Q42073073-C4C5A030-BA61-44D5-9C5A-95916C5E889DQ42223634-202BDA2B-90C7-46C0-9670-27E406C6AC23Q45959365-B9F4F7EE-4B2B-4563-B9D1-845ED99D9C6DQ47141354-02E4ECE8-0AB0-4A9B-8E86-A237C15AF0C8Q48428602-90115ABF-479A-4DA4-9800-AACF2A4193D8Q48501399-E34A2C1B-568D-4AE2-9583-9222FD0C071EQ48522770-E894BB3F-4E85-4970-BC4B-C85722754C50Q48728317-C6279D17-69F8-4686-A1B9-CA902D123004Q49885130-601511E0-0E34-4BE9-BE05-1A64B1684295Q49885143-EF2871C9-C1DE-4C0D-89E7-2C3CFAEDA9DBQ50523868-1649B138-0BFA-4C51-9D5F-58C1BD19691AQ52144866-6A595B9E-9CF9-4EF6-B1A6-2D6C37FEE7C4Q53519294-EF41DA86-CB78-4B78-9B43-A0109FE6C16BQ54782646-C4B97782-9927-41A9-8704-9F4FBEB56F19Q54987240-F9A60082-31F0-4445-897E-55C3CC06FB14Q58459194-09561B12-E4A1-4B73-A29C-C204807285EB
P2860
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
New insights into the phenotypes of 6q deletions.
@en
type
label
New insights into the phenotypes of 6q deletions.
@en
prefLabel
New insights into the phenotypes of 6q deletions.
@en
P2093
P1476
New insights into the phenotypes of 6q deletions.
@en
P2093
Bofinger M
Milatovich A
P2860
P304
P356
10.1002/(SICI)1096-8628(19970627)70:4<377::AID-AJMG9>3.0.CO;2-Q
P577
1997-06-01T00:00:00Z