American Journal of Medical Genetics: Vol 102, No 3

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Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

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Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

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Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

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Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

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Phenotype of five patients with Greig syndrome and microdeletion of 7p13

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Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects *

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Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?

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Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

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Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter

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Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state *

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XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

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Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome

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Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

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Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

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Infant with congenital erosions of the skin of several fingers and gastroschisis

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Partial trisomy of 2p and neuroblastoma

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Reply to letter to the editor by Willatt—“Partial trisomy of 2p and neuroblastoma”

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Diagnosis of FS should not be made until PKS is ruled out

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Response to letter to the editor by Zenker— “Diagnosis of FS should not be made until PKS is ruled out”

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Erratum: Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. 2001. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type a patients: possible single origin for 1091delC mutation. Am J Med Genet 100:223-228.

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American Journal of Medical Genetics: Volume 102, Issue 3

Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects *

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter

Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state *

XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

Infant with congenital erosions of the skin of several fingers and gastroschisis

Partial trisomy of 2p and neuroblastoma

Reply to letter to the editor by Willatt—“Partial trisomy of 2p and neuroblastoma”

Diagnosis of FS should not be made until PKS is ruled out

Response to letter to the editor by Zenker— “Diagnosis of FS should not be made until PKS is ruled out”

Erratum: Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. 2001. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type a patients: possible single origin for 1091delC mutation. Am J Med Genet 100:223-228.

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American Journal of Medical Genetics

Journal list menu

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American Journal of Medical Genetics: Volume 102, Issue 3

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Pierre Robin sequence and interstitial deletion 2q32.3-q33.2

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13

Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review

Phenotype of five patients with Greig syndrome and microdeletion of 7p13

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects*

Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: A severe expression of the Genoa syndrome or a newly recognized syndrome?

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter

Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state*

XV-2c/KM-19 haplotype analysis of cystic fibrosis mutations in Mexican patients

Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression

Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18

Infant with congenital erosions of the skin of several fingers and gastroschisis

Partial trisomy of 2p and neuroblastoma

Reply to letter to the editor by Willatt—“Partial trisomy of 2p and neuroblastoma”

Diagnosis of FS should not be made until PKS is ruled out

Response to letter to the editor by Zenker— “Diagnosis of FS should not be made until PKS is ruled out”

Erratum: Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L. 2001. Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type a patients: possible single origin for 1091delC mutation. Am J Med Genet 100:223-228.

Tools

More from this journal

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects *

Common MEFV mutations among Jewish ethnic groups in Israel: High frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state *