|1|De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. (25683120)
Chong J.X.... Bamshad M.J.
|2|Growth retardation, general hypotonia, and loss of acquired neuromotor skills in the infants of mothers with cobalamin deficiency and the possible role of succinyl-CoA and glycine in the pathogenesis. (25738478)
|3|Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay. (24700535)
Prasun P.... Ebrahim S.
|4|De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. (24791903)
Xia F.... Gibbs R.A.
|5|Down Syndrome Related Muscle Hypotonia: Association with COL6A3 Functional SNP rs2270669. (23626599)
Dey A.... Mukhopadhyay K.
|6|Interstitial deletion of 2q24.2: Further delineation of an emerging syndrome associated with intellectual disability, severe hypotonia and moderate intrauterine growth restriction. (24357343)
Yokoyama E.... FrA-as S.
|7|Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia. (22210230)
Ballarati L.... Giardino D.
|8|Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness. (23072189)
Mahjoubi F.... Razazian F.
|9|Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. (22291068)
Dill P.... Weber P.
|10|The effects of muscle hypotonia and weakness on balance: a study on Prader-Willi and Ehlers-Danlos syndrome patients. (21306869)
Galli M.... Capodaglio P.
|11|Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements. (20485326)
Whibley A.... Raymond F.L.
|12|General anaesthesia for MRI in children with hypotonia: a case series. (20299996)
Pasternak J.J.... Lanier W.L.
|13|First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. (19734047)
Monnier N.... Lunardi J.
|14|Hypotonia and infantile spasms: a new phenotype of coenzyme Q10 deficiency? (19294900)
Huntsman R.J.... Dunham C.P.
|15|Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. (21686663)
Chabrol B.... Creemers J.W.
|16|Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment. (19610086)
Hunter M.... Amor D.J.
|17|Finding new etiologies of mental retardation and hypotonia: X marks the spot. (18190539)
Rogers R.C.... Schwartz C.E.
|18|Transitory hypotonia as a prognostic factor in combined procedures of phacoemulsification and deep sclerectomy. (19112864)
Rekas M.... Stankiewicz A.
|19|A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. (17065071)
Brussel W.... Janssens P.M.
|20|Hypotonia in a newborn: Unravelling more than expected. (19030263) |2006|
|21|Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism. (15902551)
HorvA!th R.... Jaksch M.
|22|Midbrain disconnection: an aetiology of severe central neonatal hypotonia. (16055359)
Bednarek N.... Morville P.
|23|Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. (12514359)
Rozendaal L.... Hennekam R.C.
|24|Pathologic quiz case: Male infant with generalized hypotonia and absence of respirations at birth,. (11260644)
Kelly N.A.... Thomas C.
|25|Infant with inadequate feeding and weight gain, progressive respiratory difficulty, hypotonia, and weakness, with onset at birth. (10982486)
Pomerance H.H.... Fernandez R.
|26|Neonatal muscle hypotonia--an early manifestation of cerebral palsy. (11347335)
Krusteva M.B.... Mileva S.A.
|27|Local invasion of gastric cancer: CT findings and pathologic correlation using 5-mm incremental scanning, hypotonia, and water filling. (9930788)
Rossi M.... Rossi P.
|28|Developmental delay, expressive aphasia, hypotonia and dysmorphism in two brothers: an X-linked mental retardation syndrome? (9843001)
Jones K.J.... North K.N.
|29|A 35-week neonate with respiratory failure, hypotonia, and joint contractures. (9018441)
Kahn J.A.... Cataltepe S.
|30|A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. (8064821)
Qazi Q.H.... Kula R.
Miller V.S.... Iannaccone S.T.
|32|New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria. (1605225)
Zollino M.... Neri G.
|33|Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency. (2000272)
Treem W.R.... Hyams J.S.
|34|Hypotonia at six years in prematurely-born or small-for-gestational-age children. (3208669)
Touwen B.C.... Huisjes H.J.
|35|Ataxia and hypotonia in Haemophilus influenzae type b meningitis. (3257821)
King S.M.... Read S.E.
|36|Hypotonia: an erroneous clinical concept? (3790972)
van der MechAc F.G.... van Gijn J.
|37|Evaluation of the floppy infant, or congenital hypotonia. (3745901)
|38|Absence of later auditory brain stem response components, congenital horizontal nystagmus, and hypotonia in male infants. (3963694)
Kaga K.... Marsh R.
|39|Electrodiagnosis in the evaluation of progressive hypotonia in infancy with particular reference to infant botulism. (6950120)
Schrager G.O.... Waran S.P.
|40|Medicinal treatment for relief of hypotonia in Down's Syndrome. (130644)
|41|Clinical experience with the Mentor bladder stimulator. III. Patients with urinary vesical hypotonia. (1117498)
|42|Neonatal hypotonia secondary to transplacental bromism. (4610424)
Mangurten H.H.... Ban R.
|43|A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. (4717588)
COHEN M.M.... Lampert K.J.
|44|Electron-microscope findings on the muscle from an atypical case of infantile hypotonia. (4795542)
|47|A mechanism underlying cerebellar hypotonia. (4974857)
|48|INFANTILE HYPOTONIA: A CLINICAL STUDY. (14088333)
SEDGWICK R.P.... YAMAZAKI J.N.
|49|Regulation of kidney function in exsiccosis; the role of cerebral hypotonia, hypoxemia and hypercapnia in the regulation of renal circulation]. (13166269)
GOMORI P.... WILTNER W.
|50|CONGENITAL HYPOTONIA (CONGENITAL AMYOPLASIA). (20763296)