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1.
Ann Pediatr Endocrinol Metab ; 20(1): 59-63, 2015 Mar.
Article in English | MEDLINE | ID: mdl-25883929

ABSTRACT

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

2.
Acta Crystallogr Sect E Struct Rep Online ; 68(Pt 4): o966, 2012 Apr 01.
Article in English | MEDLINE | ID: mdl-22590022

ABSTRACT

In the title compound, C(18)H(21)NO(4), the dihedral angles between the acetamide group and the meth-oxy- and hy-droxy-substitured benzene rings are 80.81 (5) and 8.19 (12)°, respectively. The benzene rings are twisted with respect to each other, making a dihedral angle of 72.89 (5)°. In the crystal, N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a three-dimensional network.

3.
Acta Crystallogr Sect E Struct Rep Online ; 68(Pt 2): o530, 2012 Feb 01.
Article in English | MEDLINE | ID: mdl-22347126

ABSTRACT

In the title compound, C(14)H(14)N(2)O(2)S, the dihedral angles between the thio-urea group and the methoxyphenyl and hydroxyphenyl rings are 61.91 (4) and 76.90 (4)°, respectively. The benzene rings are twisted with respect to each other, making a dihedral angle of 71.03 (4)°. The H atoms of the thio-urea NH groups are positioned anti to each other. In the crystal, inter-molecular N-H⋯S, N-H⋯O and O-H⋯S hydrogen bonds link the mol-ecules into a three-dimensional network.

4.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 8): o2094, 2011 Aug 01.
Article in English | MEDLINE | ID: mdl-22091113

ABSTRACT

In the title compound, C(14)H(14)N(2)O(2), the dihedral angle between the benzene rings is 23.6 (1)°. The H atoms of the urea NH groups are positioned syn to each other. In the crystal, inter-molecular N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a three-dimensional network.

5.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 9): m1237, 2011 Sep 01.
Article in English | MEDLINE | ID: mdl-22064792

ABSTRACT

The asymmetric unit of the polymeric title salt, [Cs(C(6)H(4)NO(3))](n), comprises a Cs(+) cation and a 6-oxidopyridinium-2-carboxyl-ate anion. The Cs(+) cation is six-coordinated by O atoms derived from two oxido and four carboxyl-ate O atoms; each O atom in the anion bridges two Cs(+) cations. In the crystal, inter-molecular N-H⋯O hydrogen bonding is present and contributes to the stability of the three-dimensional network generated by the bridging O atoms.

6.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 10): o2632, 2011 Oct 01.
Article in English | MEDLINE | ID: mdl-22065236

ABSTRACT

In the title compound, C(16)H(18)N(2)O(3), the dihedral angle between the 4-meth-oxy-phenyl ring and the urea group is 35.6 (2) °. The H atoms of the urea NH groups are positioned syn to each other. In the crystal, inter-molecular N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a two-dimensional array in the ac plane; the carbonyl-O atom is trifurcated.

7.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 11): o2865, 2011 Nov.
Article in English | MEDLINE | ID: mdl-22219905

ABSTRACT

In the title amide compound, C(16)H(17)NO(5), the dihedral angle between the benzene rings is 71.59 (4)°. In the crystal, inter-molecular N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a two-dimensional array parallel to the ab plane.

8.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 10): o2487-8, 2010 Sep 04.
Article in English | MEDLINE | ID: mdl-21587487

ABSTRACT

In the title compound, C(10)H(14)N(2)O(3)S, the 3-meth-oxy-phenyl unit is almost planar, with an r.m.s. deviation of 0.013 Å. The dihedral angle between the benzene ring and the plane of the thio-urea unit is 62.57 (4)°. In the crystal, N-H⋯O and O-H⋯S hydrogen bonds link the mol-ecules into a three-dimensional network.

9.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 9): o2388-9, 2010 Aug 25.
Article in English | MEDLINE | ID: mdl-21588724

ABSTRACT

In the title compound, C(17)H(20)N(2)O(4), the 2,5-dimeth-oxy-phenyl unit is essentially planar, with an r.m.s. deviation of 0.015 Å. The dihedral angle between the benzene rings is 43.66 (4)°. The mol-ecular structure is stabilized by a short intra-molecular N-H⋯O hydrogen bond. In the crystal, inter-molecular N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a three-dimensional network.

10.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 11): o2705-6, 2010 Oct 02.
Article in English | MEDLINE | ID: mdl-21588920

ABSTRACT

In the title compound, C(17)H(20)N(2)O(4), the 2,5-dimeth-oxy-phenyl unit is almost planar, with an r.m.s. deviation of 0.015 Å. The dihedral angle between the 2,5-dimeth-oxy-phenyl ring and the urea plane is 20.95 (8)°. The H atoms of the urea NH groups are positioned syn to each other. The mol-ecular structure is stabilized by a short intra-molecular N-H⋯O hydrogen bond. In the crystal, inter-molecular N-H⋯O and O-H⋯O hydrogen bonds link the mol-ecules into a three-dimensional network.

11.
Acta Crystallogr Sect E Struct Rep Online ; 66(Pt 12): o3303-4, 2010 Nov 27.
Article in English | MEDLINE | ID: mdl-21589582

ABSTRACT

In the title compound, C(16)H(18)N(2)O(4)S, the dihedral angle between the hy-droxy-phenyl ring and the plane of the thio-urea moiety is 54.53 (8)°. The H atoms of the NH groups of thio-urea are positioned anti to each other. In the crystal, inter-molecular N-H⋯S, N-H⋯O, and O-H⋯S hydrogen bonds link the mol-ecules into a three-dimensional network.

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